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.
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.
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.
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.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
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.
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)
Mapping of the KARYOTYPE of a cell.
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.
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.
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 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.
The external and internal organs related to reproduction.
The gamete-producing glands, OVARY or TESTIS.
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 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.
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.
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)
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.
Congenital absence of or defects in structures of the eye; may also be hereditary.
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.
The front third of the eyeball that includes the structures between the front surface of the cornea and the front of the VITREOUS BODY.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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.
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.
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.
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 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.
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.

True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. (1/17)

True hermaphroditism (TH) refers to individuals who have both unequivocal ovarian tissue and testicular elements regardless of their karyotypes; whereas mixed gonadal dysgenesis (MGD) refers to individuals who usually have a differentiated gonad on one side and a streak gonad or streak testis on the other side. A differential diagnosis between the TH and MGD has important clinical implications for gender assignment and the decision for early gonadectomy; however, variable clinical and histological features frequently lead to the confusion of TH with MGD. We reviewed the clinicopathological features of TH (n = 4) and MGD (n = 6) in young children to identify which morphological features are important for a differential diagnosis between the two conditions. In both conditions, the testicular compartment was composed of immature seminiferous tubules lined by immature Sertoli cells and primitive germ cells; this finding was not helpful for a differential diagnosis. The ovarian compartment in TH cases showed numerous primordial follicles containing primary oocytes with a few primary or antral follicles; however, ovarian compartments in patients with MGD were characterized by primitive sex-cordlike structures with or without germ cell components within the ovarian-type stroma, mimicking gonadoblastomas in two cases and granulosa cell or Sertoli cell tumors in three cases. Hormonal profiles, cytogenetic results, and an internal duct system were not helpful in a differential diagnosis. In conclusion, a differential diagnosis between TH and MGD is largely dependent on the histological features of the gonads. Therefore, examination of all resected or biopsied tissue and the application of strict histological criteria are important.  (+info)

Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X, idic(Y)/45,X. (2/17)

We report monozygotic twins of different sexual phenotypes. One of the twins had complete female external genitalia except for a mild clitoromegaly. She had bilateral gonads consisting of the wavy stroma and scant dysgenetic seminiferous tubules. No androgen secretion was induced by gonadotrophin stimulation. The other twin had hypospadiac male genitalia. His gonads were located intrascrotally and he had good androgenic response to a stimulation test. Conventional and fluorescence in situ hybridization chromosome analysis disclosed that both twins had a 47,X,idic(Y),idic(Y)/46,X,idic(Y)/45,X and 47,X, + mar x 2.ish idic(Y)(q11.2)(DYZ3++ x 2)/46,X, + mar.ish idic(Y)(q11.2)(DZY3++)/45,X. These twins were clinically monochorionic and allelotype analysis in these twins and their parents with microsatellite markers showed the affirmative probability of 0.999999994 for monozygosity. The ratio of mosaicism, gonadal histology, and testosterone productivity were reasonably correlated to the genital virilization in these monozygotic twins, showing discordant sexual phenotypes.  (+info)

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants. (3/17)

Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.  (+info)

Root growth in the permanent teeth of 45,X/46,XX females. (4/17)

Studies on individuals with sex chromosome anomalies have provided proof of a direct differential promoting effect of the X and Y chromosome genes on tooth crown growth. 45,X/46,XX females are one subgroup of Turner patients who have both normal XX and one X sex chromosome cell lines. Their permanent tooth crown size is reduced, which is mainly due to thin enamel. 45,X females likewise show reduced crown size and enamel thickness, and their root size is reduced. By contrast, the lengths of the roots in 47,XYY males or males with an extra Y chromosome and 46,XY females or females with a male sex chromosome constitution are increased. The aim of the present study was to investigate permanent tooth root lengths in 45,X/46,XX females to obtain additional information on their dental growth. The study group consisted of 15 45,X/46,XX females, mean age 23.4 years; 10 female relatives, mean age 24.5 years; and 47 population control females, mean age 29.8 years, from the Kvantti research project. Root length measurements were made from panoramic radiographs on both sides of the jaw using a sliding digital calliper. The results showed that permanent tooth root lengths in 45,X/46,XX females were, in most cases, significantly shorter than those of the population controls or relatives. It is apparent that a reduced tooth crown size in 45,X/46,XX females is followed by reduced root growth. This begins 3 years after birth and continues to at least 14 years of age. It is suggested that the reduction in crown and root growth in 45,X/4,XX females is due to a deficiency in the amount of dental growth-promoting genes on the sex chromosomes.  (+info)

Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. (5/17)

A two-year-and-eight-month-old girl presented with clitoromegaly and short stature. Two cell lines, 45,X and 46,X,idic(Y)(q11.2), were observed. Cytogenetic and fluorescence in situ hybridisation investigations were carried out on her peripheral lymphocytes and gonadal cells, to determine the genotype-phenotype effect with respect to differential tissue distribution, effects of the sex determining region of the Y chromosome, and the break-points in the azoospermia factor region.  (+info)

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes. (6/17)

 (+info)

46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. (7/17)

 (+info)

Mixed gonadal dysgenesis with normal karyotype: a rare case report. (8/17)

 (+info)

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.

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.

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.

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.

'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.

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.

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%.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

"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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46,XY also known as XY gonadal dysgenesis Mixed gonadal ... XY gonadal dysgenesis persons. Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, is a sex ... Manifestations of mixed gonadal dysgenesis are highly variable with asymmetry in gonadal development of testis and streak gonad ... 46,XX pure gonadal dysgenesis was first reported in 1960. 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was ...
... as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X). ... There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions ... and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis. Swyer ... Eh, Zheng; Liu, Weili (June 1994). "A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal tumors". ...
"True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases". Modern Pathology. ... There are also mixed breeding systems, in both plants and animals, where hermaphrodite individuals coexist with males (called ... From that period until the early 21st century, intersex individuals were termed true hermaphrodites if their gonadal tissue ... Jarne P, Auld JR (September 2006). "Animals mix it up too: the distribution of self-fertilization among hermaphroditic animals ...
"True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases". Modern Pathology. ... Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically. The term ... Jarne, Philippe; Auld, Josh R. (2006). "Animals Mix It up Too: The Distribution of Self-Fertilization Among Hermaphroditic ... mixed chromosomal anomalies or hormone deficiency/excess disorders, 47XXY. Less than 1% have XX/XY chimerism. True ...
It is similar in some ways to mixed gonadal dysgenesis but the conditions can be distinguished histologically. The condition ... "True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases". Modern Pathology. ... "pure gonadal dysgenesis" from serving in the United States Armed Forces. The three are all intersex conditions and are as of ... or pure gonadal dysgenesis. Page 24 14. -Male Genitalia System: m. History of major abnormalities or defects of the genitalia ...
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 ... XX gonadal dysgenesis (46,XX karyotype) Leydig cell agenesis or hypoplasia, not otherwise specified (46,XY karyotype) Absent ( ... Ahmed SF, Cheng A, Hughes IA (April 1999). "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome". ...
Mixed gonadal dysgenesis - is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex ... Swyer Syndrome (Pure Gonadal Dysgenesis or XY gonadal dysgenesis) is a type of hypogonadism in a person whose karyotype is 46, ... Ostrow, Vlady; De Luca, Francesco (2009). "Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, ... "Pure gonadal dysgenesis 46,XY - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-01-20. ...
Kuzemko was born in 1993 in Lviv, Ukraine with mixed gonadal dysgenesis and assigned female at birth. She was unaware of any ...
... such as Klinefelter syndrome or mixed gonadal dysgenesis. Hormone levels (especially gonadotropins and AMH) can help confirm ... The testes begin as an immigration of primordial germ cells into testicular cords along the gonadal ridge in the abdomen of the ... Cryptorchidism, hypospadias, testicular cancer, and poor semen quality make up the syndrome known as testicular dysgenesis ...
... the second one is mixed gonadal dysgenesis. Most commonly, at birth, the phallus enlarges, so it is larger than normal female ... Sexual orientation is more mixed, though the majority are heterosexual.[medical citation needed] In one study[specify], 27% of ... reported differences in markers of gonadal function in a subgroup of patients, especially in those with inadequate control. ...
... the child is usually a girl with the features of Turner syndrome or mixed gonadal dysgenesis.[citation needed] Klinefelter ...
... has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome ... Gonadoblastoma is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y ... A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large primordial germ cells, immature ... Gonadoblastomas can contain elements of both germ cells and gonadal stroma. Formerly, gonadoblastoma was sometimes regarded as ...
... and mixed gonadal dysgenesis. The discovery of cortisone allowed survival of infants with severe CAH for the first time. New ... and conditions in which the gonadal sex did not match that of the external genitalia, their ability to understand and diagnose ...
... pure gonadal dysgenesis, 17β-hydroxysteroid dehydrogenase deficiency, and mixed gonadal dysgenesis. Constitutional delay of ... Gonadal dysgenesis, often associated with Turner syndrome, or premature ovarian failure may also be to blame. If secondary sex ... However, one common feature of this syndrome is ovarian insufficiency due to gonadal dysgenesis. Most people with Turner ... For example, most patients with Turner syndrome will be infertile due to gonadal dysgenesis. However, patients are frequently ...
... gonadal dysgenesis, 46,xy MeSH C16.131.260.800.345 - gonadal dysgenesis, mixed MeSH C16.131.260.800.490 - Klinefelter syndrome ... gonadal dysgenesis MeSH C16.131.939.842.309.193 - gonadal dysgenesis, 46,xx MeSH C16.131.939.842.309.388 - gonadal dysgenesis, ... gonadal dysgenesis, 46,xy MeSH C16.320.180.800.345 - gonadal dysgenesis, mixed MeSH C16.320.180.800.490 - Klinefelter syndrome ... gonadal dysgenesis, mixed MeSH C16.131.939.842.309.872 - turner syndrome MeSH C16.131.939.842.316 - hermaphroditism MeSH ...
... and López-Hernández syndrome Gonadal dysgenesis Gonadal dysgenesis mixed Gonadal dysgenesis Turner type Gonadal dysgenesis XY ... type associated anomalies Gonadal dysgenesis, XX type Gonadal dysgenesis, XY female type Goniodysgenesis mental retardation ...
... genital variations in infants with XY or mixed chromosomes to be raised as girls, such as gonadal dysgenesis, partial and ... 1976 The age of occurrence of gonadal tumors in intersex patients with a Y chromosome". Am J Obstet Gynecol. 124 (3): 293-300. ... The new term refers to "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical." The ... "Morphological and Immunohistochemical Differences between Gonadal Maturation Delay and Early Germ Cell Neoplasia in Patients ...
... the most common is mixed, which may contain seminoma.[citation needed] Abnormal gonads (due to gonadal dysgenesis and androgen ...
... gonadal dysgenesis, 46,xy MeSH C19.391.775.309.391 - gonadal dysgenesis, mixed MeSH C19.391.775.309.872 - turner syndrome MeSH ... 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 ... gonadal dysgenesis MeSH C12.740.700.842.309.195 - gonadal dysgenesis, 46,xx MeSH C12.740.700.842.309.293 - ...
... gonadal dysgenesis, 46,xy MeSH C13.371.820.700.842.309.391 - gonadal dysgenesis, mixed MeSH C13.371.820.700.842.309.872 - ... gonadal dysgenesis MeSH C13.371.820.700.842.309.193 - gonadal dysgenesis, 46,xx MeSH C13.371.820.700.842.309.388 - ...
G. I. M. Swyer first describes XY gonadal dysgenesis. First reported mitral valve replacement, by Judson Chesterman of ... Murray Gell-Mann and Abraham Pais investigate neutral kaon mixing. Luis Walter Alvarez develops the design of a liquid hydrogen ...
They are particularly prominent in individuals with dysgenic gonads of 46, XY pure gonadal dysgenesis patients. Based on gross ... Histologically, these tumors are characterized by mixed solid and cystic components. The mixed solid components are ... Dygerminomas are Malignant germ cell tumor of ovary and particularly prominent in patients diagnosed with gonadal dysgenesis. ... Wang Y, Yang JX, Yu M, Cao DY, Shen K (2018). "Malignant mixed ovarian germ cell tumor composed of immature teratoma, yolk sac ...
... gonadal dysgenesis, but no adrenal insufficiency. Since then, studies have confirmed that mutations in NR5A1 in patients with ... 2010) conducted a study on the nonobstructive infertile men (a non-Caucasian mixed ancestry n = 315), which resulted in the ... Targeted disruption of NR5A1 (Ftzf1) in mice results in gonadal and adrenal agenesis, persistence of Mullerian structures and ...
There it may be a sign of: Premature menopause Gonadal dysgenesis, Turner syndrome, Klinefelter syndrome Castration Swyer ... LH is available mixed with FSH in the form of menotropin, and other forms of urinary gonadotropins. More purified forms of ... Gonadal steroids (estrogens and androgens) generally have negative feedback effects on GnRH-1 release at the level of the ... Positive feedback by estrogens also occurs in the gonadal axis of female mammals and is responsible for the midcycle surge of ...
Hypoaldosteronism Hyperaldosteronism Disorders of sex development or intersex disorders Hermaphroditism Gonadal dysgenesis ... involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine ...
... menopause also known as Premature Ovarian Failure Poor ovarian reserve also known as Premature Ovarian Aging Gonadal dysgenesis ... FSH is available mixed with LH activity in various menotropins including more purified forms of urinary gonadotropins such as ... FSH is subject to oestrogen feed-back from the gonads via the hypothalamic pituitary gonadal axis. FSH stimulates the growth ... Diminished secretion of FSH can result in failure of gonadal function (hypogonadism). This condition is typically manifested in ...
People with an XY karyotype and ovaries (gonadal dysgenesis) or an X,0 karyotype and ovaries (Turner syndrome) who develop a ... Mixed tumors contain elements of more than one of the above classes of tumor histology. To be classed as a mixed tumor, the ... Though mixed carcinomas can have any combination of cell types, mixed ovarian cancers are typically serous/endometrioid or ... and liver function are used to diagnose germ cell tumor and potential co-occurring gonadal dysgenesis. A germ cell tumor may be ...
Thecoma Fibroma Mixed and other sex cord-stromal tumors Mixed sex cord-stromal tumor Signet ring stromal tumor Myoid gonadal ... Skakkebaek, N. E.; Rajpert-De Meyts, E.; Main, K. M. (May 2001). "Testicular dysgenesis syndrome: an increasingly common ... postpubertal type Teratoma with somatic-type malignancy Mixed germ cell tumors of the testis Mixed germ cell tumors ... are sex cord-gonadal stromal tumours derived from Leydig cells or Sertoli cells. Correct diagnosis is necessary to ensure the ...
These included: Androgen Insensitivity Syndrome (AIS), Gonadal dysgenesis, Turner's Syndrome, congenital adrenal hyperplasia, ... but is no longer eligible to compete on a women's team without changing that team status to a mixed team. 2. A trans female ( ... They, among others, argued the Barr body test did not take into account gonadal, morphological, and psychological sex ... as well as when events are limited to mixed-sex teams of defined composition (e.g., most pairs events). Practice has varied ...
XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46,XY also known as XY gonadal dysgenesis Mixed gonadal ... XY gonadal dysgenesis persons. Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, is a sex ... Manifestations of mixed gonadal dysgenesis are highly variable with asymmetry in gonadal development of testis and streak gonad ... 46,XX pure gonadal dysgenesis was first reported in 1960. 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was ...
Mixed gonadal dysgenesis (MGD). This is an intersex condition, in which there are some male structures (gonad, testis), as well ... This can include tests for adrenal and gonadal steroids.. In some cases, laparoscopy, exploratory laparotomy, or biopsy of the ...
Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and ... 46XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease ... The lesion was removed by emergency surgery, and the pathology report indicated a mixed germ cell tumor with a seminoma and ... Tumor do Seio Endodérmico Disgenesia Gonadal Seminoma Neoplasias Testiculares Adulto Feminino Hemorragia Humanos Masculino ...
For example, in mixed gonadal dysgenesis (MGD), a streak gonad is usually present on one side and a testis (usually dysgenetic ... Partial gonadal dysgenesis. Partial gonadal dysgenesis can be classified as either 46,XY DSD or sex chromosome DSD if there is ... Mixed gonadal dysgenesis-dysgenetic male pseudohermaphroditism. Josso N, ed. The Intersex Child. Basel: Karger; 1981. 105-11. ... Mixed gonadal dysgenesis (MGD) is the second most common cause of DSDs. ...
Mixed Gonadal Dysgenesis. Mixed gonadal dysgenesis occurs in children who have a chromosomal abnormality that causes them to be ... Pure Gonadal Dysgenesis. Children with pure gonadal dysgensis syndrome have a 46, XY karytope of a normal male but have ... The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis.. Humans have 46 ...
We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal … ... We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with ...
Twenty-four hour, Non-invasive, Neonatal Chromosome Analysis-Application in a Case of Mixed Gonadal Dysgenesis. R Quaife, S H ...
Mixed gonadal dysgenesis no estimate. Complete gonadal dysgenesis one in 150,000 births. Hypospadias (urethral opening in ...
... the diagnosis is mixed gonadal dysgenesis. The most common karyotype in mixed gonadal dysgenesis is 45,XO/46,XY, but other ... In any case, mixed gonadal dysgenesis is associated with varying degrees of inadequate masculinization, and such males would be ... It should be remembered that the distinction between mixed gonadal dysgenesis and Turner syndrome with Y material is unclear. ... the sex of rearing should be female and gonadectomy is recommended as for mixed gonadal dysgenesis. These patients should be ...
Differential diagnoses include other DSD, including mixed gonadal dysgenesis and 46,XX testicular DSD. NR2F2 gene variants have ... Malignant gonadal tumors are rare (less than 3% of cases).. Etiology The cause of 46,XX ovotesticular DSD is not elucidated for ... The need for and timing of surgical treatment is complex, depending on sex assignment and gonadal configuration. Management ... Definitive diagnosis is based on gonadal histology (testicular and ovarian tissue).. Differential diagnosis ...
Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting ... Note, however, that most 45,X/46,XY individuals have mixed gonadal dysgenesis as opposed to true hermaphroditism. ... Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. ... Phenotypic, gonadal, and molecular studies have led to several causation theories:. * Genetic chimerism: Fewer than 1% of ...
CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex ... None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of ...
Mixed Gonadal Dysgenesis Sintomas de oxiuros en ninas Detoxic, remediu pt. paraziti intestinali - pareri, pret, prospect, ...
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am.... OMIM:617480. ... Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se.... ORPHA:206484. ... Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries. ORPHA:242. Oocyte/Zygote/ ... Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia .... ORPHA:98798. ...
Mixed gonadal dysgenesis. * Nutritional Considerations in Failure to Thrive. * Obstructive uropathy. * Pediatric Adrenal ...
Gonadal Dysgenesis Mixed Whats New Last Posted: Jan 01, 2011 * Gonadal dysgenesis mixed From NCATS Genetic and Rare Diseases ...
mixed gonadal dysgenesis DOID:14449 * granulomatous orchitis DOID:3089 * ovary rhabdomyosarcoma DOID:4059 ...
Diagnosed by laparotomy or laporoscopy with or without gonadal biopsy.. Causes:. *Mixed gonadal dysgenesis ... Gonadal Intersex. *Both testicular and Müllerian tissue present.. * ...
... mixed gonadal dysgenesis [MGD]), or male-typical external genitalia. Patients with TS+Y have increased risk of gonadal tumors, ... 1) complete gonadal dysgenesis (Swyer syndrome); (2) partial gonadal dysgenesis; (3) gonadal regression; and (4) ovotesticular ... Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY). J Obstet Gynaecol India 2021 ... Figure 10 Diagnostic laparoscopic images of the pelvis in a 1-year-old patient with mixed gonadal dysgenesis. A. *Left streak ...
mixed gonadal dysgenesis DOID:14449 * paraphimosis DOID:5334 * ovarian cyst DOID:5119 ...
Mixed Gonadal Dysgenesis 66% INIS. * genesis 100% Biochemistry, Genetics and Molecular Biology. * Chromosome Abnormality 66% ...
45,X/46,XY mosaicism (mixed gonadal dysgenesis). 46,XX/46,XY (chimerism/mosaicism) ... Disorders of gonadal (testis) development. Complete or partial gonadal dysgenesis (e.g., SRY, SOX9, SF1, WT1, DHH, GATA4/ZFPM2 ... Subtler forms of gonadal dysfunction (e.g., Klinefelters syndrome [KS], Turners syndrome [TS]) often are diagnosed later in ... Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. DHT, ...
45,X/46,XY mosaicism (mixed gonadal dysgenesis). 46,XX/46,XY (chimerism/mosaicism) ... Complete or partial gonadal dysgenesis (e.g., SRY, SOX9, SF1, WT1, DHH, MAP3K1) ... Subtler forms of gonadal dysfunction (e.g., Klinefelters syndrome [KS], Turners syndrome [TS]) often are diagnosed later in ... Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. DHT, ...
Guest post by a parent of a child with mixed gonadal dysgenesis. The ultrasound. And with it, the excitement of being able to ...
Mixed gonadal dysgenesis (MGD) is the second most common cause of DSD. Hypospadias occurs at a rate of 1 case per 300 live male ... In the gonadal male, differentiation toward the male phenotype actively occurs over the next 8 weeks is moderated by ... Chromosomal sex determines gonadal sex, which determines phenotypic sex. The type of gonad present determines the ... A Mixed Methodology is awarded Best Article for Vol 12 issue 18. A Study by Jabbar Desai et al. entitled Prevalence of ...
Xo xy mixed gonadal dysgenesis, history of postnatal depression over % ncs, par- ticularly with the same way. The rst operation ... Should not be withheld hrs before scheduled bedtime, to delay relapse depression, mania, hypomania, mixed episodes may arise in ...
XY mixed gonadal dysgenesis. Midline defects such as cleft lip and palate or a single middle incisor (in an older child) can be ... Any asymmetry of the gonads would point to a diagnosis of mixed gonadal dysgenesis (45,X/46,XY). The stretched penile length ( ... The most common 46,XY DSDs that present in adolescent girls are CAIS and complete gonadal dysgenesis (CGD); CAIS is ... Microcephaly, facial dysmorphism, short stature, and mental retardation are associated with gonadal dysgenesis in patients with ...
True Hermaphroditism and Mixed Gonadal Dysgenesis. During familiar visits, semistructured interviews were accomplished with ... 5. Gonadal steroid replacement did not rever se the inhibition of canatoxin-induced bIood glucose aIterations produced by ... Hermafroditismo Verdadeiro e Disgenesia Gonadal Mista compuseram a amostra. Durante visitas domiciliares, foram realizadas ...
16 Kennedy, 25 of patients with mixed gonadal dys- genesis and Y component have gonado- blastoma and germ cell tumour {1620}. ...
  • Pure gonadal dysgenesis 46,XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46,XY also known as XY gonadal dysgenesis Mixed gonadal dysgenesis also known as partial gonadal dysgenesis, and 45,X/46,XY mosaicism Turner syndrome also known as 45,X or 45,X0 Endocrine disruptions 46,XX gonadal dysgenesis is characteristic of female hypogonadism with a karyotype of 46,XX. (wikipedia.org)
  • Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review. (bvsalud.org)
  • 46XY partial gonadal dysgenesis ( PGD ) is a rare subtype of disorder of sex development (DSD). (bvsalud.org)
  • Complete or partial gonadal dysgenesis (e.g. (mhmedical.com)
  • These were cases with 46, XX congenital adrenal hyperplasia, partial androgen insensitivity, mixed or partial gonadal dysgenesis, and micropenis where data about the assigned gender, childhood genital-normalizing surgery, and adult gender could be extracted. (e-urol-sci.com)
  • Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in humans. (wikipedia.org)
  • 46YY PGD is a congenital disease with atypical chromosomal, gonadal, or anatomical sex development . (bvsalud.org)
  • The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
  • 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)
  • The presence of intermediate or atypical combinations of physical features that usually distinguish Female from Male due to congenital involving chromosomal, morphological, genital and/or gonadal anomalies, such as diversion from typical XX-female or XY-male presentations, e.g., sex reversal (XY female XX -male), genital ambiguity, or sex developmental differences. (ijcrr.com)
  • 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)
  • 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)
  • CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. (figshare.com)
  • One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. (wikipedia.org)
  • We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. (nih.gov)
  • 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)
  • Gonadal germ cell tumors form in the gonads (testicles and ovaries). (cigna.com)
  • 46,XY gonadal dysgenesis is characteristic of male hypogonadism with karyotype 46,XY. (wikipedia.org)
  • 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)
  • This karyotype can be associated with mixed gonadal dysgenesis in both boys and girls, depending on the tissue distribution of the 45,X and 46,X(r)Y cell lines. (juniperpublishers.com)
  • Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)
  • A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
  • A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). (uchicago.edu)
  • 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)
  • 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)
  • 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 lesion was removed by emergency surgery , and the pathology report indicated a mixed germ cell tumor with a seminoma and yolk sac tumors . (bvsalud.org)
  • Malignant gonadal tumors are rare (less than 3% of cases). (orpha.net)
  • Childhood extracranial germ cell tumors are grouped as gonadal or extragonadal extracranial tumors. (cigna.com)
  • Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (XX or XY), which directs the formation of the gonad (ovary or testis). (wikipedia.org)
  • The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis development such as SRY, SOX9, WT1, SF1, and DHH. (wikipedia.org)
  • These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
  • The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
  • 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)
  • 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)
  • None presented gonadal malignancy. (figshare.com)
  • It is important to identify the underlying aetiology in time, since not only the risk of diabetes is increased, but also the prevalence of insufficient gonadal function and malignancy, e.g. in mixed gonadal dysgenesis (MGD).Case report: A 19 year old adolescent pres. (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)
  • 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)
  • Definitive diagnosis is based on gonadal histology (testicular and ovarian tissue). (orpha.net)
  • Interruption during ovarian development in embryogenesis can cause 46,XX gonadal dysgenesis with cases of changes in the FSH receptor and mutations in steroidogenic acute regulatory protein (StAR protein) which regulates steroid hormone production. (wikipedia.org)
  • 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)
  • 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)
  • Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early foetal development. (wikipedia.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)
  • Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.com)
  • Noen utvikler en spesiell type anfall med plutselig tap av muskeltonus utløst av taktil- eller hørselsstimulus (Stimulus Induced Drop Attacs/SIDA). (sjelden.no)
  • Should not be withheld hrs before scheduled bedtime, to delay relapse depression, mania, hypomania, mixed episodes may arise in an otherwise healthy patient. (familytreecounseling.com)
  • Differential diagnoses include other DSD, including mixed gonadal dysgenesis and 46,XX testicular DSD. (orpha.net)
  • We conducted a generalized logistic mixed-model regression analysis, with multiple predictors of adult assigned gender incongruence. (e-urol-sci.com)