A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A transcription factor that plays an essential role in the development of the TESTES. It is encoded by a gene on the Y chromosome and contains a specific HMG-BOX DOMAIN that is found within members of the SOX family of transcription factors.
The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
Mapping of the KARYOTYPE of a cell.
A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
A malignant ovarian neoplasm, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. It is the counterpart of the classical seminoma of the testis, to which it is both grossly and histologically identical. Dysgerminomas comprise 16% of all germ cell tumors but are rare before the age of 10, although nearly 50% occur before the age of 20. They are generally considered of low-grade malignancy but may spread if the tumor extends through its capsule and involves lymph nodes or blood vessels. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1646)
The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.
Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora.
The primary testis-determining gene in mammalians, located on the Y CHROMOSOME. It codes for a high mobility group box transcription factor (TRANSCRIPTION FACTORS) which initiates the development of the TESTES from the embryonic GONADS.
The gamete-producing glands, OVARY or TESTIS.
The external and internal organs related to reproduction.
A transcription factor and member of the nuclear receptor family NR5 that is expressed throughout the adrenal and reproductive axes during development. It plays an important role in sexual differentiation, formation of primary steroidogenic tissues, and their functions in post-natal and adult life. It regulates the expression of key steroidogenic enzymes.
The mechanisms by which the SEX of an individual's GONADS are fixed.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
An orphan nuclear receptor that is implicated in regulation of steroidogenic pathways. It is unlike most orphan nuclear receptors in that it appears to lack an essential DNA-binding domain and instead acts as a transcriptional co-repressor. Mutations in the gene Dax-1 cause congenital adrenal hypoplasia.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Absence of menstruation.
The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.
Congenital absence of or defects in structures of the eye; may also be hereditary.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA.
The front third of the eyeball that includes the structures between the front surface of the cornea and the front of the VITREOUS BODY.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A plasticizer used in most plastics and found in water, air, soil, plants and animals. It may have some adverse effects with long-term exposure.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Pathological processes of the TESTIS.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix.

Gonadal dysgenesis is a condition characterized by the abnormal development of the gonads, which are the reproductive organs that produce sex hormones and gametes (sperm or eggs). In individuals with gonadal dysgenesis, the gonads may be underdeveloped, structurally abnormal, or completely absent. This condition can affect people of any gender and is often associated with other genetic disorders, such as Turner or Klinefelter syndromes.

The clinical presentation of gonadal dysgenesis varies widely depending on the severity of the disorder and the presence of other associated conditions. Some individuals may have normal sexual development and fertility, while others may experience delayed puberty, infertility, or ambiguous genitalia. Gonadal dysgenesis can also increase the risk of developing gonadal tumors, particularly in individuals with complete or partial absence of the gonads.

The diagnosis of gonadal dysgenesis is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may include hormone replacement therapy to support sexual development and prevent complications associated with hormonal imbalances. In some cases, surgical removal of the gonads may be recommended to reduce the risk of tumor development.

Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.

The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.

Gonadal dysgenesis, mixed is a medical condition that refers to the abnormal development and function of the gonads (ovaries or testes). In this form of gonadal dysgenesis, both ovarian and testicular tissues are present in the same individual, but they are not properly organized or functioning. This can lead to ambiguous genitalia, infertility, and an increased risk of developing gonadal tumors. The condition is often associated with genetic disorders such as Turner, Klinefelter, or other sex chromosome abnormalities.

Gonadoblastoma is a rare, typically benign, slow-growing tumor that primarily affects the gonads (ovaries or testes). It most commonly occurs in individuals with disorders of sexual development, particularly those with gonadal dysgenesis and a 46,XY karyotype. The tumor is composed of germ cells and sex cord stromal cells, which differentiate into various cell types found within the gonads.

Gonadoblastomas are usually asymptomatic and are often discovered incidentally during imaging studies or surgical procedures for other conditions. In some cases, they may produce hormones leading to precocious puberty or virilization. Although typically benign, there is a risk of malignant transformation into germ cell tumors such as dysgerminoma, seminoma, or teratoma. Regular follow-up and monitoring are essential for early detection and management of potential complications. Treatment usually involves surgical removal of the affected gonad.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

The Sex-Determining Region Y (SRY) protein is a transcription factor that plays a critical role in male sex determination. It is encoded by the SRY gene, which is located on the Y chromosome in humans and many other mammal species. The primary function of the SRY protein is to initiate the development of the testes during embryonic development.

In the absence of a functional SRY protein, the gonads will develop into ovaries. With a functional SRY protein, the gonads will develop into testes, which then produce androgens, including testosterone, that are necessary for the development of male secondary sexual characteristics. Mutations in the SRY gene can lead to sex reversal, where an individual with a Y chromosome develops as a female due to non-functional or absent SRY protein.

Dermatoglyphics is the study of the fingerprints, palm prints, and other skin ridge patterns found on the hands and feet. These patterns are formed during fetal development and are generally considered to be unique to each individual. Dermatoglyphics can provide important clues about a person's genetic makeup and health status, and they are often used in forensic investigations to help identify individuals. In medicine, dermatoglyphics may be used to help diagnose certain genetic disorders or birth defects.

'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.

There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.

Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.

Disorders of Sex Development (DSD) are a group of conditions that occur when there is a difference in the development and assignment of sex characteristics. These differences may be apparent at birth, at puberty, or later in life. DSD can affect chromosomes, gonads, genitals, or secondary sexual characteristics, and can result from genetic mutations or environmental factors during fetal development.

DSDs were previously referred to as "intersex" conditions, but the term "Disorders of Sex Development" is now preferred in medical settings because it is more descriptive and less stigmatizing. DSDs are not errors or abnormalities, but rather variations in human development that require sensitive and individualized care.

The diagnosis and management of DSD can be complex and may involve a team of healthcare providers, including endocrinologists, urologists, gynecologists, psychologists, and genetic counselors. Treatment options depend on the specific type of DSD and may include hormone therapy, surgery, or other interventions to support physical and emotional well-being.

Thyroid dysgenesis is a developmental disorder that affects the thyroid gland, which is a small butterfly-shaped gland located in the front of the neck. The thyroid gland is responsible for producing hormones that regulate metabolism, growth, and development.

In thyroid dysgenesis, the thyroid gland fails to develop properly during fetal development or early childhood. This can result in a range of abnormalities, including:

* Athyreosis: Complete absence of the thyroid gland.
* Hypoplasia: Underdevelopment of the thyroid gland, resulting in a smaller than normal gland.
* Ectopy: Displacement of the thyroid gland from its normal location in the neck to elsewhere in the body, such as the chest or tongue.
* Heterotopy: Presence of thyroid tissue in abnormal locations, such as within the thymus gland or along the course of the thyroglossal duct.

Thyroid dysgenesis can lead to hypothyroidism, a condition characterized by low levels of thyroid hormones in the body. Symptoms of hypothyroidism may include fatigue, weight gain, cold intolerance, constipation, dry skin, and depression. Treatment typically involves replacement therapy with synthetic thyroid hormones.

Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).

Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.

The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.

Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.

Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.

It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

I'm sorry for any confusion, but "Frasier Syndrome" is not a recognized medical condition or syndrome in the standard medical literature. It seems like it might be a term that is specific to a certain context or fictional work. In popular culture, "Frasier" is a television show about a character named Frasier Crane, and it's possible that "Frasier Syndrome" could refer to something within the realm of that fiction. However, without more specific information about where you encountered this term, I cannot provide an accurate definition.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Sex determination analysis is a medical or biological examination used to establish the genetic or phenotypic sex of an individual. This can be done through various methods, including:

1. Genetic testing: Examination of an individual's DNA to identify the presence of specific sex chromosomes (XX for females and XY for males). This is typically performed through a blood or tissue sample.
2. Chromosomal analysis: Microscopic examination of an individual's chromosomes to determine their number and structure. In humans, females typically have 46 chromosomes, including two X chromosomes (46,XX), while males typically have 46 chromosomes, including one X and one Y chromosome (46,XY).
3. Phenotypic analysis: Observation of an individual's physical characteristics, such as the presence or absence of certain sex organs or secondary sexual characteristics, to determine their phenotypic sex.

Sex determination analysis is used in various medical and research contexts, including prenatal testing, diagnosis of disorders of sex development (DSDs), forensic investigations, and population studies. It's important to note that while sex determination analysis can provide information about an individual's genetic or phenotypic sex, it does not necessarily reflect their gender identity, which is a personal sense of being male, female, or something else.

Dysgerminoma is a type of germ cell tumor that develops in the ovaries. It is a malignant (cancerous) tumor that primarily affects girls and women of reproductive age, although it can occur at any age. Dysgerminomas are composed of large, round, or polygonal cells with clear cytoplasm and distinct cell borders, arranged in nests or sheets. They may also contain lymphoid aggregates and may produce hormones such as estrogen or testosterone.

Dysgerminomas are usually unilateral (affecting one ovary), but they can be bilateral (affecting both ovaries) in about 10-15% of cases. They tend to grow and spread rapidly, so early detection and treatment are crucial for a favorable prognosis.

The standard treatment for dysgerminoma is surgical removal of the affected ovary or ovaries, followed by chemotherapy with agents such as bleomycin, etoposide, and cisplatin (BEP). With appropriate treatment, the five-year survival rate for patients with dysgerminoma is high, ranging from 80% to 95%.

Sexual development is a multidimensional process that includes physical, cognitive, emotional, and social aspects. It refers to the changes and growth that occur in an individual from infancy to adulthood related to sexuality, reproduction, and gender identity. This process involves the maturation of primary and secondary sex characteristics, the development of sexual attraction and desire, and the acquisition of knowledge about sexual health and relationships.

Physical aspects of sexual development include the maturation of reproductive organs, hormonal changes, and the development of secondary sexual characteristics such as breast development in females and facial hair growth in males. Cognitive aspects involve the development of sexual knowledge, attitudes, and values. Emotional aspects refer to the emergence of sexual feelings, desires, and fantasies, as well as the ability to form intimate relationships. Social aspects include the development of gender roles and identities, communication skills related to sexuality, and the ability to navigate social norms and expectations around sexual behavior.

Sexual development is a complex and ongoing process that is influenced by various factors such as genetics, hormones, environment, culture, and personal experiences. It is important to note that sexual development varies widely among individuals, and there is no one "normal" or "correct" way for it to unfold.

A neoplasm of gonadal tissue refers to an abnormal growth or tumor that develops in the reproductive organs, specifically the ovaries in women and the testes in men. These tumors can be benign (non-cancerous) or malignant (cancerous), and their growth can interfere with the normal function of the gonads.

Gonadal tissue neoplasms can have various causes, including genetic mutations, environmental factors, and hormonal imbalances. The symptoms of these tumors may vary depending on their size, location, and type, but they can include pelvic pain, bloating, abnormal menstruation, or a palpable mass in the affected area.

It is essential to diagnose and treat gonadal tissue neoplasms as early as possible to prevent complications such as infertility, metastasis, or death. Diagnostic procedures may include imaging tests, blood tests, and biopsies, while treatment options may include surgery, radiation therapy, chemotherapy, or hormone therapy.

The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.

The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.

It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

The clitoris is an important female sex organ that is primarily responsible for sexual arousal and pleasure. It is a small, highly sensitive piece of tissue located at the front of the vulva, where the labia minora meet. The clitoris is made up of two parts: the visible part, known as the glans clitoris, and the hidden part, called the corpora cavernosa and crura.

The glans clitoris is a small knob-like structure that is covered by a hood, or prepuce, and is located at the top of the vulva. It contains a high concentration of nerve endings, making it highly sensitive to touch and stimulation. The corpora cavernosa and crura are the internal parts of the clitoris, which are made up of sponge-like erectile tissue that becomes engorged with blood during sexual arousal, leading to clitoral erection.

The clitoris plays a crucial role in female sexual response and pleasure. During sexual arousal, the clitoris swells and becomes more sensitive to touch, which can lead to orgasm. The clitoris is also an important source of sexual pleasure during masturbation and partnered sexual activity. Despite its importance in female sexuality, the clitoris has historically been overlooked or stigmatized in many cultures, leading to a lack of understanding and education about this vital organ.

"SRY" (Sex Determining Region Y) is not a gene itself but a specific region on the Y chromosome that contains the genetic information necessary to initiate male sex determination. The SRY region encodes a protein called the testis-determining factor (TDF), which plays a crucial role in the development of the male phenotype by triggering the differentiation of the gonadal ridge into testes.

The SRY gene is typically found only on the Y chromosome and is considered one of the primary genetic factors that distinguish males from females in many mammalian species, including humans. Mutations or abnormalities in the SRY region can lead to sex chromosome-related disorders of sexual development (DSDs), such as Swyer syndrome or XY female disorder of sex development, where individuals with a 46,XY karyotype develop female phenotypes due to the absence or dysfunction of the SRY protein.

Gonads are the reproductive organs that produce gametes (sex cells) and sex hormones. In males, the gonads are the testes, which produce sperm and testosterone. In females, the gonads are the ovaries, which produce eggs and estrogen and progesterone. The development, function, and regulation of the gonads are crucial for reproductive health and fertility.

Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.

Steroidogenic Factor 1 (SF-1 or NR5A1) is a nuclear receptor protein that functions as a transcription factor, playing a crucial role in the development and regulation of the endocrine system. It is involved in the differentiation and maintenance of steroidogenic tissues such as the adrenal glands, gonads (ovaries and testes), and the hypothalamus and pituitary glands in the brain.

SF-1 regulates the expression of genes that are essential for steroid hormone biosynthesis, including enzymes involved in the production of cortisol, aldosterone, and sex steroids (androgens, estrogens). Mutations in the SF-1 gene can lead to various disorders related to sexual development, adrenal function, and fertility.

In summary, Steroidogenic Factor 1 is a critical transcription factor that regulates the development and function of steroidogenic tissues and the biosynthesis of steroid hormones.

"Sex determination processes" refer to the series of genetic and biological events that occur during embryonic and fetal development which lead to the development of male or female physical characteristics. In humans, this process is typically determined by the presence or absence of a Y chromosome in the fertilized egg. If the egg has a Y chromosome, it will develop into a male (genetically XY) and if it does not have a Y chromosome, it will develop into a female (genetically XX).

The sex determination process involves the activation and repression of specific genes on the sex chromosomes, which direct the development of the gonads (ovaries or testes) and the production of hormones that influence the development of secondary sexual characteristics. This includes the development of internal and external genitalia, as well as other sex-specific physical traits.

It is important to note that while sex is typically determined by genetics and biology, gender identity is a separate construct that can be self-identified and may not align with an individual's biological sex.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

DAX-1 (Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that functions as a transcriptional regulator. It is also known as NR0B1 (Nuclear Receptor Subfamily 0, Group B, Member 1).

DAX-1 plays crucial roles in various developmental processes, including sexual differentiation and adrenal gland development. Mutations in the DAX-1 gene have been associated with X-linked adrenal hypoplasia congenita (AHC), a condition characterized by defective adrenal gland development and primary adrenal insufficiency.

The term "Orphan Nuclear Receptor" refers to a class of nuclear receptors for which no natural ligand has been identified yet. DAX-1 is one such orphan nuclear receptor, as its specific endogenous ligand remains unknown. However, recent studies suggest that steroids and other small molecules might interact with DAX-1 and modulate its activity.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

Amenorrhea is a medical condition characterized by the absence or cessation of menstrual periods in women of reproductive age. It can be categorized as primary amenorrhea, when a woman who has not yet had her first period at the expected age (usually around 16 years old), or secondary amenorrhea, when a woman who has previously had regular periods stops getting them for six months or more.

There are various causes of amenorrhea, including hormonal imbalances, pregnancy, breastfeeding, menopause, extreme weight loss or gain, eating disorders, intense exercise, stress, chronic illness, tumors, and certain medications or medical treatments. In some cases, amenorrhea may indicate an underlying medical condition that requires further evaluation and treatment.

Amenorrhea can have significant impacts on a woman's health and quality of life, including infertility, bone loss, and emotional distress. Therefore, it is essential to consult with a healthcare provider if you experience amenorrhea or missed periods to determine the underlying cause and develop an appropriate treatment plan.

The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.

The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.

Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.

Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

SOX9 (SRY-related HMG-box gene 9) is a transcription factor that belongs to the SOX family of proteins, which are characterized by a high mobility group (HMG) box DNA-binding domain. SOX9 plays crucial roles in various developmental processes, including sex determination, chondrogenesis, and neurogenesis.

As a transcription factor, SOX9 binds to specific DNA sequences in the promoter or enhancer regions of its target genes and regulates their expression. In the context of sex determination, SOX9 is essential for the development of Sertoli cells in the male gonad, which are responsible for supporting sperm production. SOX9 also plays a role in maintaining the undifferentiated state of stem cells and promoting cell differentiation in various tissues.

Mutations in the SOX9 gene have been associated with several human genetic disorders, including campomelic dysplasia, a severe skeletal disorder characterized by bowed legs, and sex reversal in individuals with XY chromosomes.

The anterior eye segment refers to the front portion of the eye, which includes the cornea, iris, ciliary body, and lens. The cornea is the clear, dome-shaped surface at the front of the eye that refracts light entering the eye and provides protection. The iris is the colored part of the eye that controls the amount of light reaching the retina by adjusting the size of the pupil. The ciliary body is a muscle that changes the shape of the lens to focus on objects at different distances. The lens is a transparent structure located behind the iris that further refracts light to provide a clear image. Together, these structures work to focus light onto the retina and enable vision.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Dibutyl phthalate (DBP) is a synthetic chemical compound that belongs to a class of chemicals called phthalates. It is a colorless, oily liquid with a mild odor and is widely used as a plasticizer to make plastics more flexible and durable. DBP is commonly added to polyvinyl chloride (PVC) products such as vinyl flooring, wall coverings, shower curtains, and consumer products like cosmetics, personal care products, and cleaning solutions.

In medical terms, DBP has been identified as a reproductive toxicant and endocrine disruptor, which means it can interfere with the body's hormonal system and potentially affect reproductive health. Studies have shown that exposure to DBP during pregnancy may be associated with adverse outcomes such as reduced fetal growth, abnormalities in male reproductive development, and behavioral problems in children.

Therefore, it is important to limit exposure to DBP and other phthalates, especially for pregnant women and young children. Some steps you can take to reduce your exposure include avoiding plastic containers with the recycling codes 3 or 7 (which may contain phthalates), choosing personal care products that are labeled "phthalate-free," and using natural cleaning products whenever possible.

Genetic hybridization is a biological process that involves the crossing of two individuals from different populations or species, which can lead to the creation of offspring with new combinations of genetic material. This occurs when the gametes (sex cells) from each parent combine during fertilization, resulting in a zygote with a unique genetic makeup.

In genetics, hybridization can also refer to the process of introducing new genetic material into an organism through various means, such as genetic engineering or selective breeding. This type of hybridization is often used in agriculture and biotechnology to create crops or animals with desirable traits, such as increased disease resistance or higher yields.

It's important to note that the term "hybrid" can refer to both crosses between different populations within a single species (intraspecific hybrids) and crosses between different species (interspecific hybrids). The latter is often more challenging, as significant genetic differences between the two parental species can lead to various reproductive barriers, making it difficult for the hybrid offspring to produce viable offspring of their own.

Congenital hypothyroidism is a medical condition characterized by the partial or complete absence of thyroid hormone production in the baby's body at birth. The thyroid gland, which is located in the front of the neck, produces hormones that are essential for normal growth and development of the brain and body.

Congenital hypothyroidism can occur due to various reasons such as the absence or abnormal development of the thyroid gland, or a defect in the production or regulation of thyroid hormones. In some cases, it may be caused by genetic mutations that affect the development or function of the thyroid gland.

If left untreated, congenital hypothyroidism can lead to mental and physical retardation, growth problems, and other health issues. Therefore, it is important to diagnose and treat this condition as early as possible, usually within the first few weeks of life. Treatment typically involves replacing the missing thyroid hormones with synthetic medications, which are safe and effective when administered under a doctor's supervision.

Testicular diseases refer to a range of conditions that affect the testicles, the male reproductive organs located in the scrotum. These diseases can affect either one or both testicles and may cause pain, swelling, or impact fertility. Here are some examples of testicular diseases:

1. Testicular cancer: A malignant tumor that develops in the testicle. It is a relatively rare cancer but is highly treatable if detected early.
2. Testicular torsion: A surgical emergency that occurs when the spermatic cord, which supplies blood to the testicle, becomes twisted, cutting off the blood flow.
3. Epididymitis: An infection or inflammation of the epididymis, a coiled tube that stores and carries sperm from the testicle.
4. Orchitis: An infection or inflammation of the testicle itself. It can occur on its own or as a complication of mumps.
5. Hydrocele: A fluid-filled sac that forms around the testicle, causing swelling.
6. Varicocele: Enlarged veins in the scrotum that can cause pain and affect fertility.
7. Inguinal hernia: A condition where a portion of the intestine or fat protrudes through a weakened area in the abdominal wall, often appearing as a bulge in the groin or scrotum.
8. Testicular trauma: Injury to the testicle, which can result from accidents, sports injuries, or other causes.
9. Undescended testicles: A condition where one or both testicles fail to descend from the abdomen into the scrotum before birth.

It is essential for men to perform regular self-examinations to check for any unusual lumps, swelling, or pain in the testicles and seek medical attention if they notice any changes.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Oophoritis is a medical term that refers to the inflammation of one or both ovaries. It is often caused by an infection, which can be bacterial, viral, or fungal in nature. The infection can spread to the ovaries from other parts of the reproductive system, such as the fallopian tubes or the uterus.

Oophoritis can cause symptoms such as pelvic pain, abdominal cramping, irregular menstrual bleeding, and fever. In some cases, it may lead to complications such as infertility or chronic pelvic pain. Treatment typically involves antibiotics to clear the infection, as well as pain relief medications and anti-inflammatory drugs to manage symptoms.

It is important to note that oophoritis can be a serious condition, especially if left untreated. If you are experiencing any symptoms of oophoritis, it is important to seek medical attention promptly.

There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions ... A familial XY gonadal dysgenesis causing high incidence of embryonic gonadal tumors- a report of the fourth dysgerminoma in ... XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. Though ... and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis. Swyer ...
Swyer Syndrome (Pure Gonadal Dysgenesis or XY gonadal dysgenesis) is a type of hypogonadism in a person whose karyotype is 46, ... Mixed gonadal dysgenesis - is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex ... "Pure gonadal dysgenesis 46,XY - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-01-20. ... Gonadal Dysgenesis - is any congenital developmental disorder of the reproductive system characterized by a progressive loss of ...
XY. Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. ... The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to ... Perrault reported the association of gonadal dysgenesis and deafness, now called Perrault syndrome. Gonadal dysgenesis Ledig, S ... In contrast XX gonadal dysgenesis has a normal female chromosome situation.[citation needed] Another type of XX gonadal ...
XY also known as XY gonadal dysgenesis Mixed gonadal dysgenesis also known as partial gonadal dysgenesis, and 45,X/46,XY ... XY gonadal dysgenesis persons. Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, is a sex ... Chen H, Huang H, Chang T, Lai C, Soong Y (2006). "Pure XY gonadal dysgenesis and agenesis in monozygotic twins". Fertility and ... XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46, ...
XY pure gonadal dysgenesis patients. Based on gross examinations, dysgerminomas are characterized by having a 'solid, lobulated ... Dygerminomas are Malignant germ cell tumor of ovary and particularly prominent in patients diagnosed with gonadal dysgenesis. ... They are particularly prominent in individuals with dysgenic gonads of 46, ...
In infants with XY genotype it causes an intersex condition as a result of gonadal dysgenesis. Although males with Frasier ... XY), they have gonadal dysgenesis, in which external genitalia may not look clearly male or clearly female (ambiguous genitalia ... Because females do not have all the features of the condition (e.g. gonadal dysgenesis), females are usually given the ... Frasier, SD; Bashore, SD; Bashore, RA; Mosier, HD (May 1964). "Gonadoblastoma associated with pure gonadal dysgenesis in ...
XY gonadal dysgenesis, and a possible association with blood pressure. The c2orf80 gene is located on the negative sense strand ... XY gonadal dysgenesis identified by a customized 1 M array-CGH platform". European Journal of Medical Genetics. 56 (12): 661- ... Y gonadal dysgenesis, a disorder of sex development, had a deletion of 8 of the 9 c2orf80 exons, and an interstitial ... Norling A, Lindén Hirschberg A, Iwarsson E, Persson B, Wedell A, Barbaro M (December 2013). "Novel candidate genes for 46, ...
XY gonadal dysgenesis: its relevance to the understanding of sex differentiation". Medicine. 70 (6): 375-83. doi:10.1097/ ... "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis". ... The SF-1 protein, on its own, leads to minimal transcription of the SOX9 gene in both the XX and XY bipotential gonadal cells ... Jäger RJ, Anvret M, Hall K, Scherer G (November 1990). "A human XY female with a frame shift mutation in the candidate testis- ...
XY gonadal dysgenesis. Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X ... Such disorders include partial or complete gonadal dysgenesis, ovotesticular DSD, testicular DSD and sex reversal. Genital ... "Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management". Journal of Pediatric Urology. 12 (6): ... In XY chromosome fetuses, excess androgens result in a functional and average-sized penis with extreme virilisation, but the ...
XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor". ... as well as how certain mutations could explain diseases such as gonadal dysgenesis. During his time at UCLA, he created mouse ... "Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation". Molecular Brain Research. 118 (1-2): 82-90 ... 46 (2): 519-537. doi:10.1016/j.ecl.2017.01.015. ISSN 0889-8529. PMC 5714504. PMID 28476235. Marchant, Joanna (2011-04-14). " ...
The main differentials for CAIS are complete gonadal dysgenesis (Swyer syndrome) and Müllerian agenesis (Mayer-Rokitansky- ... but in XY individuals typically had become testicles due to the presence of the Y chromosome. The cells of unaffected XY ... The incidence of gonadal tumors in childhood is thought to be relatively low; a recent review of the medical literature found ... This results not only in infertility in individuals with CAIS, but also presents a risk of gonadal cancer later on in life. ...
XY karyotype and ambiguous genitalia, gonadal dysgenesis, but no adrenal insufficiency. Since then, studies have confirmed that ... Targeted disruption of NR5A1 (Ftzf1) in mice results in gonadal and adrenal agenesis, persistence of Mullerian structures and ... XY sex reversal with primary adrenal failure to male infertility. For the first time, Bashamboo et al. (2010) conducted a study ... XY karyotype and disorders of sex development (DSD), Mullerian structures and primary adrenal failure (MIM 612965). After that ...
... is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y ... XY mosaicism) are at increased risk for gonadoblastoma. Because of the risk of gonadoblastoma, individuals with Turner syndrome ... Gonadoblastoma has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome ... A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature ...
For a second condition that causes people who have XY chromosomes to have a feminine phenotype, see XY gonadal dysgenesis (also ... XY Complete Gonadal Dysgenesis (Source attribution, CS1 errors: periodical ignored, Articles with short description, Short ... In some cases, gonadal surgery can be performed to remove partial or whole female genitalia. This may be followed by plastic ... Typically, the appearance of XX males differs from that of an XY male in that they are smaller in height and weight. Most XX ...
... xy MeSH C13.371.820.700.842.309.391 - gonadal dysgenesis, mixed MeSH C13.371.820.700.842.309.872 - turner syndrome MeSH C13.371 ... gonadal dysgenesis MeSH C13.371.820.700.842.309.193 - gonadal dysgenesis, 46,xx MeSH C13.371.820.700.842.309.388 - gonadal ...
... xy MeSH C19.391.775.309.391 - gonadal dysgenesis, mixed MeSH C19.391.775.309.872 - turner syndrome MeSH C19.391.775.316 - ... gonadal dysgenesis MeSH C19.391.775.309.193 - gonadal dysgenesis, 46,xx MeSH C19.391.775.309.388 - gonadal dysgenesis, 46, ...
... xy MeSH C12.740.700.842.309.391 - gonadal dysgenesis, mixed MeSH C12.740.700.842.309.695 - turner syndrome MeSH C12.740.700.842 ... gonadal dysgenesis MeSH C12.740.700.842.309.195 - gonadal dysgenesis, 46,xx MeSH C12.740.700.842.309.293 - gonadal dysgenesis, ...
XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis ... Takahashi T, Shoji Y, Shoji Y, Haraguchi N, Takahashi I, Takada G (Mar 1997). "Active hypothalamic-pituitary-gonadal axis in an ... 1.1 of Stefan White & Andrew Sinclair: The Molecular Basis of Gonadal Development and Disorders of Sex Development, in: John M ... in the hypothalamic-pituitary-adrenal/gonadal axis". Biochemical and Molecular Medicine. 56 (1): 8-13. doi:10.1006/bmme. ...
... xy MeSH C16.131.939.842.309.391 - gonadal dysgenesis, mixed MeSH C16.131.939.842.309.872 - turner syndrome MeSH C16.131.939.842 ... gonadal dysgenesis MeSH C16.131.939.842.309.193 - gonadal dysgenesis, 46,xx MeSH C16.131.939.842.309.388 - gonadal dysgenesis, ... xy MeSH C16.131.260.800.345 - gonadal dysgenesis, mixed MeSH C16.131.260.800.490 - Klinefelter syndrome MeSH C16.131.260.800. ... xy MeSH C16.320.180.800.345 - gonadal dysgenesis, mixed MeSH C16.320.180.800.490 - Klinefelter syndrome MeSH C16.320.180.800. ...
XXXXX XX gonadal dysgenesis XY gonadal dysgenesis XX male syndrome This article includes a list of related items that share the ... XX/XY 47, XXX, also known as Triple X syndrome and trisomy X 47, XXY, also known as Klinefelter syndrome 47, XYY, has normal ...
XY karyotype) XX gonadal dysgenesis (46,XX karyotype) Leydig cell agenesis or hypoplasia, not otherwise specified (46,XY ... Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY (October 2002). "True hermaphroditism and mixed gonadal dysgenesis in young ... Mixed gonadal dysgenesis (45,XO/46,XY karyotype) Tetragametic chimerism (46,XX/46,XY karyotype) Androgen biosynthetic ... It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of ...
A form of complete gonadal dysgenesis, mostly due to mutations in the first step of sex determination; the SRY genes. A 5-alpha ... Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX). ... Gonadal sex refers to the gonads, that is the testis or ovaries, depending on which genes are expressed. Phenotypic sex refers ... The condition also occurs in XY males, as they suffer from the effects of low cortisol and salt-wasting, not virilization. ...
XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis This ... If deficient in XY mice, there is a delay in Sertoli cell differentiation. Moreover, there is delay in sex cord formation. ... If this signaling is deficient in XY mice, female genes are unrepressed. With no FGFR2, there is a partial sex reversal. With ... If both are deficient in XY mice, the outcome is less expression of SRY and downstream targets. Furthermore, the amount of SOX9 ...
... gonadal dysgenesis, and some XY infants with severe genital birth defects such as cloacal exstrophy. Masculinizing ... Causes of partial undervirilization with ambiguity included defects of testosterone synthesis, partial gonadal dysgenesis, ... This outcome suggests XY infants with exstrophy but normal testes should not be raised as females. "The Rights of the Intersex ... A 2004 paper by Heino Meyer-Bahlburg and others examined outcomes from early surgeries in individuals with XY variations, at ...
The magnitude of the testosterone increase can help differentiate between androgen resistance and gonadal dysgenesis, as does ... The Court ruled in the case of XX, an 8-year old with ambiguous genitalia, androgen insensitivity and XY chromosomes, raised as ... which in turn can further differentiate PAIS from gonadal dysgenesis and bilateral anorchia. Another useful dynamic test ... December 2010). "Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations ...
... (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, ... XY patient with Denys-Drash syndrome". Pediatr. Nephrol. 26 (8): 1311-5. doi:10.1007/s00467-011-1847-4. PMID 21559934. S2CID ... Males with Denys-Drash syndrome exhibit gonadal dysgenesis and undescended testes. Females with Denys-Drash syndrome typically ... parenchymatous nephropathy and XX/XY mosaicism]". Arch. Fr. Pediatr. (in French). 24 (7): 729-739. PMID 4292870. Drash A, ...
Some degree of mosaicism is present in about 25%. Encountered karyotypes include 46XX/46XY, or 46XX/47XXY or XX & XY with SRY ... Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically. The term ... Next most common are XX/XY (20-30% of cases) and XY (5-15% of cases), with the remainder being a variety of other chromosomal ... XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular ...
de la, CHAPELLE (1962). "Cytogenetical and clinical observations in female gonadal dysgenesis". Acta Endocrinologica. ... XY but whose anatomy is normal, and other conditions. They would "fail" the sex chromatin test and would not be allowed to ... This group of women comprises individuals with the androgen insensitivity syndrome whose karyotype is 46, ... de la Chapelle published the first example of a male with the karyotype 46,XX. This was the first step towards the ...
"A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". Lancet. 273 (7075): 711-3. doi:10.1016/S0140- ... it appears that XY pairing and recombination occur normally in 47,XYY, the extra Y chromosome being lost during spermatogenesis ... "Usually girls have XX chromosomes and boys have XY, but this killer is XYY, which means too much testosterone." Among other ... XY boys matched by their father's social class. In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening ...
... or gonadal dysgenesis. Amastia, which occurs when a child is born without glandular breast tissue, is rare. More than 99% of ... XY karyotype). Amenorrhea, the lack of a menstrual period, may indicate a congenital anomaly of the reproductive tract. ... Secondary sex characteristics develop under the influence of estrogen on the hypothalamic-pituitary-gonadal axis, typically ... A pediatric gynecologist can care for children with a number of intersex conditions, including Swyer syndrome (46, ...
XY gonadal dysgenesis (GD), a part of the spectrum of Disord … ... XY men, testis is determined by a genetic network(s) that both ... Disruption of this process results in a lack of testis-determination and affected individuals present with 46, ... XY gonadal dysgenesis Maëva Elzaiat 1 , Ken McElreavey 1 , Anu Bashamboo 2 ... XY complete gonadal dysgenesis. Xue M, Wang X, Li C, Zhao M, He F, Li X. Xue M, et al. Gene. 2019 Nov 15;718:144072. doi: ...
... and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is ... XY" by people in this website by year, and whether "Gonadal Dysgenesis, 46,XY" was a major or minor topic of these publications ... "Gonadal Dysgenesis, 46,XY" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Below are the most recent publications written about "Gonadal Dysgenesis, 46,XY" by people in Profiles. ...
There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions ... A familial XY gonadal dysgenesis causing high incidence of embryonic gonadal tumors- a report of the fourth dysgerminoma in ... XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. Though ... and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis. Swyer ...
XY, see Swyer syndrome. *Gonadal dysgenesis, XX type, with deafness, see Perrault syndrome ... Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance, see Perrault syndrome. *Gonadal dysgenesis with ...
Mixed gonadal dysgenesis-dysgenetic male pseudohermaphroditism. Josso N, ed. The Intersex Child. Basel: Karger; 1981. 105-11. ... XY DSD and genital inadequacy. [18] ... stratification based on gonadal palpability and meatal position ... Supplemental hormone therapy may be implemented if gonadal function is compromised. ... Patient with 46,XX disorder of sex development (DSD). Note masculinized appearance of genitalia, with enlarged phallus and ...
XY Disorders of Sex Development [C12.706.316.096] + Adrenogenital Syndrome [C12.706.316.129] + Gonadal Dysgenesis [C12.706. ... Gonadal Dysgenesis [C12.706.842.309] + Hermaphroditism [C12.706.842.316] + Kallmann Syndrome [C12.706.842.425] Klinefelter ... 46, XX Disorders of Sex Development [C12.706.316.064] + 46, ...
3. A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.. Lavi E; ... Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of ... XY gonadal dysgenesis].. Ságodi L; Ladányi E; Kiss Á; Tar A; Lukács V; Minik K; Vámosi I. Orv Hetil; 2010 Nov; 151(48):1991-5. ... XY complete gonadal dysgenesis.. Keskin M; Savaş-Erdeve Ş; Kurnaz E; Çetinkaya S; Karaman A; Apaydın S; Aycan Z. Turk J Pediatr ...
XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. J Pediatr Urol. 2011 Feb. 7(1):72-5. [QxMD ... is most often associated with Turner syndrome or other gonadal dysgenesis disorders, such as Swyer syndrome. An X chromosome ... Patients who have a Y chromosome have a 25% chance of developing a gonadal tumor. The gonads should immediately be removed. [70 ... The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol. 1976 Feb 1. 124(3):293- ...
XY gonadal dysgenesis have one X and one Y chromosome, but their ovaries do not develop normally. This condition increases the ... XY mixed gonadal dysgenesis and disorder of sexual differentiation. Medicina,45(5), 357-364. Retrieved May 31, 2016, from http ...
XY gonadal dysgenesis-motor and sensory neuropathy syndrome. 1 test. 46,XY sex reversal 2. 6 tests. ... XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency. 1 test. ... XY disorder of sex development due to testicular 17,20-desmolase deficiency. 1 test. ...
Gonadal dysgenesis due to genetic or chromosomal abnormalities (which can cause primary ovarian insufficiency) include ... The central nervous system-hypothalamic-pituitary-gonadal target organ axis. Ovarian hormones have direct and indirect effects ... Diagnosis is by measurement of gonadal hormones (testosterone and/or estradiol), luteinizing hormone, and follicle-stimulating ... XY gonadal dysgenesis. Anatomic causes of amenorrhea include. *. Congenital female reproductive tract anomalies Vaginal ...
Xy Partial Gonadal Dysgenesis. Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, ... Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency. ...
Childhood extracranial GCTs can generally be divided into gonadal and extragonadal. These tumors can also be broadly classified ... XY pure gonadal dysgenesis. Cancer 57 (7): 1313-7, 1986.. *Tanaka Y, Sasaki Y, Tachibana K, et al.: Gonadal mixed germ cell ... Coutin AS, Hamy A, Fondevilla M, et al.: [Pure 46XY gonadal dysgenesis] J Gynecol Obstet Biol Reprod (Paris) 25 (8): 792-6, ... Presence of gonadal dysgenesis.. To better identify prognostic factors, data from five U.S. trials and two U.K. trials for ...
XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. J Pediatr Urol. 2011 Feb. 7(1):72-5. [QxMD ... XY gonadal dysgenesis. These women have significantly elevated FSH levels due to the absence of ovarian follicles and reduction ... Pure gonadal dysgenesis occurs when the syndrome affects the gonads only and no other dysmorphic features are noted. ... Gonadal dysgenesis is characterized by the congenital loss or underdevelopment of germ cells within the gonad during ...
Gonadal Dysgenesis, 46,XY 1 0 Gonadoblastoma 1 0 Leiomyoma 1 0 ... XY Disorders of Sex Development 1 0 Abnormalities 1 0 Glioma 1 ...
XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study ... XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to ... None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of ... XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the ...
XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.A rare genetic, syndromic glomerular disorder ... XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.. Read More ... XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. ... Gonadal Dysgenesis with Female Appearance, Male. Gonadoblastoma. Hypergonadotropic Hypogonadism. Synonym: Hypergonadotrophic ...
XY Partial gonadal dysgenesis; diagnosis and long-term outcome at puberty  Guven, Ayla (2022) ...
Patients with other diagnosis such as partial or complete gonadal dysgenesis, 5-alpha reductase deficiency, and 46 XY. If, ... based on 46 XY karyotype, presence of testis, absence of uterus, high testosterone without signs of virilization at birth or ... a patient is determined to have causes for 46 XY DSD other than androgen insensitivity; they will no longer be followed on this ...
XY complete gonadal dysgenesis. disorder of sex development (DSD) associated with anomalies in gonadal development that result ... Cerebral dysgenesis. abnormal brain development in which the brain did not fully develop, grew abnormally, experienced ... four copies of a particular chromosome present in a cell, resulting in 48 chromosomes in the cell instead of the usual 46 ... the normal number of chromosomes for a cell or organism, 46 in the case of humans ...
Monosomy X; Gonadal Dysgenesis). By Nina N. Powell-Hamilton , MD, Sidney Kimmel Medical College at Thomas Jefferson University ... XY) may have a male or female phenotype (4 General references In Turner syndrome, girls are born with one of their two X ... Gonadal dysgenesis results in premature ovarian failure Primary Ovarian Insufficiency In primary ovarian insufficiency, ovaries ... Gonadal dysgenesis (ovaries replaced by bilateral streaks of fibrous stroma and devoid of developing ova) occurs in 90% of ...
XY Complete Gonadal Dysgenesis Complete Gonadal Dysgenesis, 46, XY Gonadal Dysgenesis, 46, XY Pure Gonadal Dysgenesis 46,XY ... Gonadal Disorders [C19.391] * Disorders of Sex Development [C19.391.119] * Gonadal Dysgenesis [C19.391.119.309] * Gonadal ... Gonadal Dysgenesis [C12.800.316.309] * Gonadal Dysgenesis, 46,XX [C12.800.316.309.193] * Gonadal Dysgenesis, 46,XY [C12.800. ... Gonadal Dysgenesis [C12.050.351.875.253.309] * Gonadal Dysgenesis, 46,XX [C12.050.351.875.253.309.193] ...
XY Complete Gonadal Dysgenesis Complete Gonadal Dysgenesis, 46, XY Gonadal Dysgenesis, 46, XY Pure Gonadal Dysgenesis 46,XY ... Gonadal Disorders [C19.391] * Disorders of Sex Development [C19.391.119] * Gonadal Dysgenesis [C19.391.119.309] * Gonadal ... Gonadal Dysgenesis [C12.800.316.309] * Gonadal Dysgenesis, 46,XX [C12.800.316.309.193] * Gonadal Dysgenesis, 46,XY [C12.800. ... Gonadal Dysgenesis [C12.050.351.875.253.309] * Gonadal Dysgenesis, 46,XX [C12.050.351.875.253.309.193] ...
XY females with sex reversal and gonadal tumour formation. Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra ... Gonadal Dysgenesis, 46,XY / genetics* Actions. * Search in PubMed * Search in MeSH ... Two novel mutations in SRY gene form Chinese sex reversal XY females. Zhou C, Fu JJ, Li LY, Lu GX. Zhou C, et al. Yi Chuan Xue ... Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box ...
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) {733605002 , SNOMED-CT } ... Pure gonadal dysgenesis 46,XY (disorder) {95218005 , SNOMED-CT } Parent/Child (Relationship Type) Chondrodysplasia with ...
XY (DISGENESIA GONADAL 46XY) y MOSAICISMO del cromosoma sexual (DISGENESIA GONADAL MIXTA). Sus fenotipos van desde el femenino ... Gonadal Dysgenesis - Preferred Concept UI. M0009537. Scope note. A number of syndromes with defective gonadal developments such ... Dysgenesis, Gonadal. Gonadal Agenesis. Tree number(s):. C12.050.351.875.253.309. C12.200.706.316.309. C12.800.316.309. C16.131. ... XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, ...
XY DSD with complete gonadal dysgenesis. Yu, P. H., Tsai, M. C., Chiang, C. T., Wang, H. Y. & Kuo, P. L., 2022 Sept, In: ... 46, 6, p. 1177-1185 9 p.. Research output: Contribution to journal › Article › peer-review ...
XY complete gonadal dysgenesis with a novel missense variant in SRY. Narita, C., Takubo, N., Sammori, M., Matsumura, Y., ...
XY gonadal dysgenesis. Meinel, J. A., Yumiceba, V., Künstner, A., Schultz, K., Kruse, N., Kaiser, F. J., Holterhus, P. M., ... XY Partial Gonadal Dysgenesis without NR0B1 Duplication. Francese-Santos, A. P., Meinel, J. A., Piveta, C. S. C., Andrade, J. G ... XY gonadal dysgenesis due to a homozygous mutation in desert hedgehog (DHH) identified by exome sequencing. Werner, R., Merz, H ... New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. Werner, R., Mönig, I., Lünstedt, R., Wünsch, L., Thorns, C ...
XY non-syndromic partial and complete gonadal dysgenesis, accounting for at least 4% of cases. Inheritance occurs in a sex- ... XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. All affected children have non-syndromic forms ... When gonadal sex is reversed, however, the germ cell sex becomes discordant with the chromosomal sex. XY females in humans are ... BACKGROUND: In eutherian mammals, the sex chromosome complement, XX and XY, determines sexual differentiation of gonadal ...
  • In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published proposed changes to the previously used nomenclature and definitions of disorders in which the development of chromosomal, gonadal, or phenotypic sex is atypical. (medscape.com)
  • Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor lesion. (eur.nl)
  • The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
  • Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
  • Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)
  • Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. (eurospe.org)
  • DSDs range from common disorders like cryptorchidism to very rare and complex conditions like complete XX or XY sex reversal. (e-apem.org)
  • 46,XY and 46,XX DSDs can be further subdivided into the subclasses of disorders of gonadal development, disorders of androgen biosynthesis and excess, and unclassified. (e-apem.org)
  • WT1 mutations have been identified in 46,XY disorders of sex development (DSD) with associated kidney disease and in few isolated forms of 46,XY DSD. (uni-luebeck.de)
  • Serum AMH measurements are useful, together with testosterone determination, in the diagnosis of patients with ambiguous genitalia: both are low in patients with gonadal dysgenesis, including ovotesticular disorders of sex development, testosterone is low but AMH is in the normal male range or higher in patients with disorders of androgen synthesis, and both hormones are normal or high in patients with androgen insensitivity. (biomedcentral.com)
  • A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. (jax.org)
  • This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS . (nih.gov)
  • Duplication of DAX-1 results in XY sex reversal. (pediatricurologybook.com)
  • 1983). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). (nih.gov)
  • however, overtly ambiguous genitalia may occur in one in 4,500 live births, and complete XX or XY sex reversal with unequivocal male or female phenotype at birth is estimated to exist in one in 20,000 live births [ 2 ]. (e-apem.org)
  • Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
  • Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)
  • XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. (wikipedia.org)
  • The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). (wikipedia.org)
  • Although an XY karyotype can also indicate a person with complete androgen insensitivity syndrome, the absence of breasts, and the presence of a uterus and pubic hair exclude the possibility. (wikipedia.org)
  • A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. (reference.md)
  • However, because of functioning normal ovarian tissue, most people experience breast development at puberty, and approximately two-thirds of those with a 46,XX peripheral karyotype menstruate. (medscape.com)
  • Sex development starts with the initial setting of either a 46,XX or a 46,XY karyotype. (e-apem.org)
  • SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)
  • Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)
  • They are characterized by the presence of dysgenetic testis and/or streak gonads, with persistence of the Müllerian ducts and inadequate virilization, and classically have a 45,X/46,XY karyotype. (biomedcentral.com)
  • The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. (wikipedia.org)
  • An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME , a mutation in the GENE, SRY , or a mutation in other autosomal genes that are involved in sex determination. (nih.gov)
  • The existence of patients with 46,XX testicular DSD, who have testicular tissue in the absence of an obvious Y chromosome or SRY genetic material, clearly requires other genetic explanations. (medscape.com)
  • According to the Chicago classification (2006), DSDs can be classified into 3 categories: sex chromosome DSDs, which include Turner syndrome and Klinefelter syndrome, as well as 45,X/46,XY and 46,XX/46,XY variants. (e-apem.org)
  • Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
  • The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
  • Although males with Frasier syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. (blogspot.com)
  • Complete or partial gonadal dysgenesis (e.g. (mhmedical.com)
  • 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. (eurospe.org)
  • Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. (eurospe.org)
  • Conclusion: WT1 analysis should be performed in new borns with complex hypospadias with at least one cryptorchid testis and in isolated 46,XY partial to complete gonadal dysgenesis. (uni-luebeck.de)
  • Low circulating levels of AMH may reflect primary testicular dysfunction, e.g. in certain patients with cryptorchidism, monorchidism, partial gonadal dysgenesis, or central hypogonadism. (biomedcentral.com)
  • Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)
  • The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination), and phenotypic sex (sex differentiation) (Fig. 383-1) . (mhmedical.com)
  • Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. (mhmedical.com)
  • 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. (figshare.com)
  • CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. (figshare.com)
  • Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. (figshare.com)
  • In the next period, called sex determination (lasting from approximately 6 to 8 weeks of gestation), the bipotent gonadal anlagen eventually develops into ovarian or testicular cells. (e-apem.org)
  • The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
  • A disorder of sex development (DSD) occurs when there is incongruence between a child's external genitalia, gonads (ovaries or testes) and chromosomal sex (XX - female or XY - male). (uchicago.edu)
  • 12 ] described the first two NR5A1 variants in individuals with 46,XY DSD who presented primary adrenal insufficiency and complete gonadal dysgenesis. (biomedcentral.com)
  • The aim of this study was to characterize the molecular genetic diagnosis of individuals with 46,XY DSD followed at Garrahan Pediatric Hospital.Medical records of 140 patients (P) followed. (eurospe.org)
  • A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)
  • Background: Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY DSD. (eurospe.org)
  • Objective: The objective of the study was the evaluation of WT1 mutations in different phenotypes of isolated 46,XY DSD and clinical consequences. (uni-luebeck.de)
  • and 2) genotype-phenotype correlation of our and all published patients with 46,XY DSD and WT1 mutations. (uni-luebeck.de)
  • Patients with WT1 mutations should be followed up closely because the risk of developing a Wilms' tumor, nephropathy, and/or gonadal tumor is very high. (uni-luebeck.de)
  • When such a gene is defective, the indifferent gonads fail to differentiate into testes in an XY fetus. (wikipedia.org)
  • Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1). (eur.nl)
  • Context: The Wilms' tumor suppressor gene (WT1) is one of the major regulators of early gonadal and kidney development. (uni-luebeck.de)
  • 46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. (nih.gov)
  • These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
  • It is believed that the term streak gonad syndrome instead of Turner's syndrome, gonadal dysgenesis, or other terms is a much more accurate description of the syndrome, at least from the clinician's point of view. (nih.gov)
  • Nuclear receptor subfamily 5 group A member 1 ( NR5A1, also known as SF-1 , AD4BP and FTZF1 ) is a key transcription factor that determines gonadal development and regulates coordinates endocrine functions [ 9 ]. (biomedcentral.com)
  • Introduction: Although, there are several studies that use the external masculinisation score (EMS) for numerical description of the external genitalia in infants with DSD, data on change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.Methods: Ob. (eurospe.org)
  • Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
  • The chromosomes are referenced as 46, XX, for a normal female or 46, XY, for a normal male. (choc.org)
  • In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. (eurospe.org)
  • These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. (e-apem.org)
  • Anatomical resources for either male or female development and variations are present in the early weeks of gestation ( Table 2 ) gonadal ridge, Wolffian (mesonephric) and Müllerian (paramesonephric) ducts, cloaca and subsequent urogenital sinus, genital tubercle and labioscrotal swellings. (pediatricurologybook.com)
  • Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. (nih.gov)
  • In the adult male, the appraisal of the endocrine function of the gonadal axis usually relies on the assessment of serum levels of gonadotropins, testosterone and inhibin B. In pediatric ages, basal testosterone and gonadotropin levels may be largely uninformative. (biomedcentral.com)
  • Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.com)
  • The first known step of sexual differentiation of a normal XY fetus is the development of testes. (wikipedia.org)
  • Serum AMH is undetectable in patients with congenital or acquired anorchidism, or with complete gonadal dysgenesis. (biomedcentral.com)
  • History, examinations, and assistant examinations were available for clinical diagnosis of 46,XY DSD. (biomedcentral.com)
  • We implemented both approaches in parallel in the diagnosis of a Chinese adolescent with 46,XY DSD. (biomedcentral.com)
  • According to the medical history, physical examinations, karyotyping, gonadotropin levels test, and ultrasound examinations, it was not difficult to obtain clinical diagnosis as 46,XY DSD. (biomedcentral.com)
  • A gonadal biopsy may ultimately be necessary for the diagnosis. (uchicago.edu)
  • Here a unique case of a phenotypically normal female (age 22 years) is reported, presenting with primary amenorrhoea, later diagnosed as hypergonadotropic hypogonadism on the basis of 46,XY gonadal dygenesis with a novel missense mutation in SRY. (eur.nl)
  • In this study the clinical characteristics and molecular etiology of 3 new severe XY DSD cases from consanguineous families are elucidated.Clinical report: Three female patients (2 sisters and a single unrelated female) presented at ages 0.1, 8 and 0.7 years with ambiguo. (eurospe.org)
  • The development of a mammalian embryo into either female or male is primarily dependent on the sex chromosomal constitution, being XX and XY respectively. (biomedcentral.com)
  • Therefore, it appears evident that the assessment of gonadal function and the definition of male hypogonadism should rely on the understanding of normal testicular physiology resulting from the integrated function of the tubular and interstitial compartments, and its developmental changes from fetal life through maturity [ 5 ]. (biomedcentral.com)
  • We described a novel NR5A1 variant and demonstrated its adverse effects on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. (biomedcentral.com)
  • Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)
  • SF-1 and WT-1 have influence over gonadal development and subsequent endocrine communication to the Wolffian (mesonephric-blue) and Müllerian (paramesonephric-orange) ducts. (pediatricurologybook.com)
  • This hypothalamic-pituitary-gonadal axis evolves throughout development, from fetal life through adulthood. (biomedcentral.com)
  • Müllerian duct structures typically develop on the gonadal side not containing testicular tissue. (medscape.com)
  • Wolffian duct structures tend to be observed on the gonadal side containing functioning testicular tissue. (medscape.com)
  • One of these men had 2 normal daughters and a child, 45,X/46,XY, with gonadal dysgenesis. (bmj.com)