46 xx testicular disorders of sex development. Medical search. Frequent questions

Differential diagnoses include other DSD, including mixed gonadal dysgenesis and 46,XX testicular DSD. (orpha.net)
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)

46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. (medlineplus.gov)
People normally have 46 chromosomes in each cell. (medlineplus.gov)
Females usually have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY). (medlineplus.gov)
In about 80 percent of individuals with 46,XX testicular difference of sex development, the condition results from an abnormal exchange of genetic material between chromosomes ( translocation ). (medlineplus.gov)
This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular difference of sex development. (medlineplus.gov)
DSDs are divided into following categories, emphasizing the karyotype's role in diagnosis: 46,XX DSD: Genetic Female Sex Chromosomes. (wikipedia.org)
46,XY DSD: Genetic Male Sex Chromosomes. (wikipedia.org)
Biological sex isn't really determined by chromosomes. (thetech.org)
Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
Sex" means the biological state of being female or male, based on sex organs, chromosomes, and endogenous hormone profiles. (legiscan.com)
The sex is principally determined by genotype in all species, but the mechanisms range from a single controlling locus to sex chromosomes bearing several linked loci required for sex determination. (researchgate.net)
Or a person may be born with mosaic genetics, so that some of her cells have XX chromosomes and some of them have XY. (damienmarieathope.com)
The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome). (thalitanobregaballet.com)
The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. (thalitanobregaballet.com)
Many genes are unique to the Y chromosome, but genes in areas known as pseudoautosomal regions are present on both sex chromosomes. (thalitanobregaballet.com)
Child born with mosaic genetics, so that some cells have XX chromosomes and others have XY. (clinicalposters.com)

The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. (medlineplus.gov)
a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome. (medlineplus.gov)
Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. (wikipedia.org)
XY, Sex reversal: patients with female phenotypes where duplication in the Xp21.2 region of the X chromosome that contains the NR0B1 (DAX1) gene is associated with XY sex reversal. (wikipedia.org)
For the first part of the sex verification test, they will probably check for a Y chromosome. (thetech.org)
Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. (e-kjgm.org)
Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. (e-kjgm.org)
The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.org)
Sex differentiation related genes such as SOX9 , FGF9 , DAX1 , WT1 , RSPO1 , and SOX10 , which are located on either autosomes or the X chromosome, may have a role in gonad development and function. (e-kjgm.org)
Trisomy 18 , also known as Edwards syndrome , is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18 . (wikipedia.org)
Background: Sex chromosome DSD constitute an important category in the definition of DSD.Objective and hypotheses: The study included 379 patients comprising a wide spectrum of presenting features, associated with different arrays of chromosomal abnormalities aiming at. (eurospe.org)
Testis-determining factor (TDF) is a 35-kilobase pair (kbp) sequence on the 11.3 subband of the Y chromosome, an area termed the sex-determining region of the Y chromosome (SRY). (medscape.com)
The existence of patients with 46,XX testicular DSD, who have testicular tissue in the absence of an obvious Y chromosome or SRY genetic material, clearly requires other genetic explanations. (medscape.com)
The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. (thalitanobregaballet.com)
In the translocation that causes 46,XX testicular difference of sex development, the SRY gene, which is normally found on the Y chromosome, is misplaced, almost always onto an X chromosome. (thalitanobregaballet.com)
48,XXYY syndrome, a condition that leads to infertility, developmental and behavioral disorders, and other health problems, is caused by the presence of an extra X chromosome and an extra Y chromosome in cells. (thalitanobregaballet.com)
Extra genetic material from the X chromosome interferes with sex development, though affected individuals are often assigned male gender at birth. (thalitanobregaballet.com)

Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. (wikipedia.org)
These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY gene. (e-kjgm.org)
p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. (prinsesmaximacentrum.nl)
However, because our genetic template is still either male or female, these anomalies or Disorders/Differences of Sex Development (DSDs) can only impair that template. (can-sg.org)
Therefore, DSDs are said to be sex-specific (belonging to one or other sex). (can-sg.org)
Instead, DSDs should be used more specifically to denote those individuals for whom their sex may be difficult for a doctor to immediately observe, which only happens in approximately 0.02% of the population (Sax, 2002). (can-sg.org)
Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. (eurospe.org)
Disorders of sex development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions encountered by the clinician. (medscape.com)
Variations at each of these stages can result in disorders (or differences) of sex development (DSDs) (Table 383-1) . (mhmedical.com)

and XY, sex reversal. (wikipedia.org)
XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated SRY and the second with no SRY gene. (wikipedia.org)
Rarely, others include palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (caused by biallelic RSPO1 gene variants), SERKAL syndrome (recessive WNT4 variants). (orpha.net)
To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY . (e-kjgm.org)
46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.org)
Duplication of DAX-1 results in XY sex reversal. (pediatricurologybook.com)
This phene has been renamed from 'XX testicular DSD (Disorder of Sexual Development)' [29/09/2023] and was previously known as Sex reversal: XX male or SRY-negative XX sex reversal. (omia.org)
Presumptive Sry-negative XX sex reversal in a llama with multiple congenital anomalies. (omia.org)
XX sex reversal in a llama. (omia.org)

Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular difference of sex development. (medlineplus.gov)
This form of the condition is called SRY -positive 46,XX testicular difference of sex development. (medlineplus.gov)
About 20 percent of people with 46,XX testicular difference of sex development do not have the SRY gene. (medlineplus.gov)
Individuals with SRY -negative 46,XX testicular difference of sex development are more likely to have genitalia that do not clearly look male or female than are people with the SRY -positive form. (medlineplus.gov)
SRY -positive 46,XX testicular difference of sex development is almost never inherited. (medlineplus.gov)
The inheritance pattern of SRY -negative 46,XX testicular difference of sex development is variable. (medlineplus.gov)

This led to the Chicago Consensus, recommending a new terminology based on the umbrella term disorders of sex differentiation. (wikipedia.org)
Individuals with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone action. (wikipedia.org)
These findings highlight how NR5A1 variants impact ovarian differentiation across multiple pathways, resulting in a switch from ovarian to testis development in genetic females. (prinsesmaximacentrum.nl)
Thenceforth, our bodies develop down one of the two reproductive pathways - a female pathway, characterised typically by 46 XX karyotype, which influences sexual differentiation to support production of eggs, and a male pathway, characterised typically by 46 XY karyotype, which influences sexual differentiation to support production of sperm. (can-sg.org)
Thus, testicular tissue must have been present during the first 12 weeks of embryogenesis because testicular differentiation occurred and testosterone and müllerian-inhibiting factor were produced. (msdmanuals.com)
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. (eurospe.org)
The type of gonad present determines the differentiation/regression of the internal ducts (ie, müllerian and wolffian ducts) and ultimately determines the phenotypic sex. (medscape.com)
Human intersex is an organic phenomenon resulting from an imbalance between the factors and events responsible for sexual determination and differentiation, which takes place when an individual's body presents ambiguities, anomalies or inconsistencies in the biological components of his or her sexual identity, i.e., in his or her sex chromosomal, hormonal and/or morphological sex 2 . (bvsalud.org)
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)
A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)
Male undermasculinisation is a disorder of sexual differentiation characterised by incompletely masculinised external genitalia in an individual with XY karyotype, bilateral testes, and male internal genital tracts. (bmj.com)

Development of external genitalia ranges from apparent female to male genitalia with hypospadias or isolated bilaterally undescended ovotestes (gonads containing ovarian and testicular elements). (orpha.net)
Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. (unige.ch)
The hormonal sex is determined through the gonads, testicles in men, and ovaries in women, as well as by other glands (pituitary and thyroid) responsible for male and female traits. (bvsalud.org)
In the XX newborn, gonads are not palpable, which classically leads to the diagnosis of female pseudohermaphroditism. (health.am)
In men, the increased levels of FSH and LH may indicate a condition called primary testicular failure, where the gonads fail to work properly themselves. (practo.com)

Ovotesticular disorder: patients having both ovarian and testicular tissue. (wikipedia.org)

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)
Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)
Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)
Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. (mhmedical.com)

At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). (medlineplus.gov)
Male humans make a lot more testosterone because it is important for early male development. (thetech.org)
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. (biomedcentral.com)
Serum AMH measurements are useful, together with testosterone determination, in the diagnosis of patients with ambiguous genitalia: both are low in patients with gonadal dysgenesis, including ovotesticular disorders of sex development, testosterone is low but AMH is in the normal male range or higher in patients with disorders of androgen synthesis, and both hormones are normal or high in patients with androgen insensitivity. (biomedcentral.com)
In men, your doctor may ask to perform this test if you have a low sperm count, fertility issues, or signs of low testosterone levels such as decreased sex drive, low muscle mass, and to detect any pituitary or hypothalamus problems. (practo.com)
METHODS A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5α-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). (bmj.com)
To address this, concentrations of testosterone, sex hormone binding globulin, androstanediol glucuronide (a metabolite of dihydrotestosterone) and estradiol were measured in stored serum specimens from men examined in the morning sample of the first phase of NHANES III (1988-1994). (cdc.gov)
Testosterone promotes the development of the secondary sex characteristics in men and serves to maintain the function of the prostate and seminal vesicles. (cdc.gov)
Most of the circulating testosterone is bound to carrier proteins (SHBG = sex hormone-binding globulin). (cdc.gov)
Sex hormone-binding globulin (SHBG) is the blood transport protein for testosterone and estradiol. (cdc.gov)

A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. (orpha.net)
Definitive diagnosis is based on gonadal histology (testicular and ovarian tissue). (orpha.net)
A diagnosis of OT-DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. (medscape.com)
Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)
Ovotestes are usually compartmentalized, with connective tissue separating the ovarian components from the testicular components. (medscape.com)
Additionally, testicular and ovarian tissue may develop on the same side of the pelvis as a separate ovary and testis. (medscape.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)
For example, important differences between sexes were evidenced in respect of palisadic tissue, epidermal stomatic number, secretory hair distribution etc. (researchgate.net)
A malformation is associated with a disorder of tissue development. (mdwiki.org)
The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)

Sometimes the term Variations in Sex Characteristics (VSC) is used, as is Disorders of Sex Development or Diverse Sex Development (DSD). (clinicalposters.com)

These processes for sex determination do not occur in females in the absence of SRY . (e-kjgm.org)
Because the species with male individuals and female individuals have evolved repeatedly from hermaphroditic progenitors, the mechanisms for the control of sex determination in flowering plants are extremely diverse. (researchgate.net)
Errors of sex determination and gonadal development, such as gonadal dysgenesis (46,XX or 46,XY) and testicular and ovotesticular disorders of sex development, represent rare forms of male hypogonadism. (msdmanuals.com)
13-15 Determination of gender using a person's genetic, hormonal and morphologic sex may be impaired if there is no psychological identification with the gender into which a person is categorized (psychological gender), or depending on the social acceptance of this person toward one of the genders (social gender). (bvsalud.org)

Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. (rarediseases.org)
Diagnosis is by testicular examination, sometimes. (msdmanuals.com)
Local penile factors and systemic diseases, including diabetes, cardiac disease, and neurologic disorders, can cause ED. Diagnosis is via physical exam and history. (lecturio.com)
Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
History, examinations, and assistant examinations were available for clinical diagnosis of 46,XY DSD. (biomedcentral.com)
We implemented both approaches in parallel in the diagnosis of a Chinese adolescent with 46,XY DSD. (biomedcentral.com)
According to the medical history, physical examinations, karyotyping, gonadotropin levels test, and ultrasound examinations, it was not difficult to obtain clinical diagnosis as 46,XY DSD. (biomedcentral.com)

What are Differences/Disorders of Sex Development (or intersex conditions)? (can-sg.org)
This phene includes information about XX differences of sexual development (XX DSD) in animals with an XX karyotype for which the causal variant has so far not been identified. (omia.org)

Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. (eurospe.org)

Under two percent of infants include atypical sex organs. (clinicalposters.com)
About 1% of U.S. infants are born with atypical sex organs. (clinicalposters.com)

12 ] described the first two NR5A1 variants in individuals with 46,XY DSD who presented primary adrenal insufficiency and complete gonadal dysgenesis. (biomedcentral.com)

The syndrome is usually identified at puberty, when inadequate sexual development is noted (typically very small, firm testes), or later, when infertility is investigated. (msdmanuals.com)
Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)
Anabolic steroid use come with side effects, including liver and heart damage (cardiomyopathy), thickening of the blood (polycythemia), deleterious changes in cholesterol and blood fat profiles (dyslipidemia), high blood pressure (hypertension), depression, gynecomastia (aka "bitch tits"), testicular shrinkage, erectile and sexual dysfunction, and infertility. (brinkzone.com)

Most of these "gender tests" you mention are actually looking at biological sex, not gender. (thetech.org)
Lots of different genes are all part of determining a baby's biological sex. (thetech.org)
2. Instill or create physiological or anatomical characteristics that resemble a sex different from an individual's biological sex, including without limitation (i) medical services that provide puberty-blocking drugs, cross-sex hormones, or other mechanisms to promote the development of feminizing or masculinizing features in the opposite biological sex or (ii) genital or nongenital gender reassignment surgery performed for the purpose of assisting an individual with a gender transition. (legiscan.com)

The cause of the condition in these individuals is often unknown, although changes affecting other genes involved in the development of sex characteristics have been identified in a small number of people with the condition. (medlineplus.gov)
About 20% of affected individuals are diagnosed before 5 years of age. (orpha.net)
NR2F2 gene variants have been described in individuals with a 46,XX testicular / ovotesticular DSD phenotype associated with cardiac defects, some with congenital diaphramatic hernia and blepharophimosis-ptosis-epicanthis inversus. (orpha.net)
The affected residue falls within the DNA-binding domain of the NR5A1 protein, however the exact mechanism by which it causes testicular development in 46,XX individuals remains unclear. (prinsesmaximacentrum.nl)
Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)

because they help determine whether a person will develop male-typical or female-typical sex characteristics. (medlineplus.gov)
Sex" refers to the biological or physical characteristics of a person. (thetech.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)
We described a novel NR5A1 variant and demonstrated its adverse effects on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. (biomedcentral.com)
Nuclear receptor subfamily 5 group A member 1 ( NR5A1, also known as SF-1 , AD4BP and FTZF1 ) is a key transcription factor that determines gonadal development and regulates coordinates endocrine functions [ 9 ]. (biomedcentral.com)

In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. (unige.ch)
Sex is determined by the SRY gene, which is responsible for the development of a fetus into a male. (thalitanobregaballet.com)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)

Yet, the example of these two conditions only affect male genitalia, meaning there is no ambiguity over the boy's sex. (can-sg.org)
Among an audito-rium of 2,000 U.S. citizens, 20 were born with "ambiguous genitalia. (clinicalposters.com)

Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. (wikipedia.org)

Congenital anomalies can also affect the development of the organs of the reproductive system. (can-sg.org)
It affects the sex organs in both men and women during sexual development. (practo.com)

They may result in a male or undervirilized male phenotype, ambiguous genitals at birth, and some degree of testicular and spermatogenic failure. (msdmanuals.com)

However, the paradigm of early gender assignment has been challenged by the results of clinical and basic science research, which show that gender identity development likely begins in utero. (medscape.com)
Sex development begins in utero but continues into young adulthood with the achievement of sexual maturity and reproductive capability. (mhmedical.com)

Cases included illustrate different causes of abnormal puberty as well as management strategies, including congenital anomalies, endocrine disorders, issues of constitutional delay, obesity, eating disorders, ovarian cancer and the effect of pharmacology, among others. (nshealth.ca)
This review will address the usefulness of AMH as a biomarker of testicular function in prepubertal and adolescent males, based on the knowledge of the endocrine regulation of testicular AMH secretion during pre- and post-natal development. (biomedcentral.com)
Polycystic Ovary Syndrome (PCOS), the most common endocrine disorder of women during the reproductive period, is often implicated with NAFLD.Aim: To investigate the potential involvement of PCOS on the aggravation of NAFLD by. (endocrine-abstracts.org)
2,3,4 In particular, some members of the CAH community identify as having an endocrine disorder, not a DSD /intersex condition. (pediatricurologybook.com)

Testicular function is mainly regulated by the pituitary gonadotropins LH and FSH, which in turn depend on gonadotropin-releasing hormone (GnRH) action, from the hypothalamus. (biomedcentral.com)

Because we all develop from a single cell following fertilisation, many structures in our bodies start from one of three common precursor tissues (germ layers), which are then acted upon by different genes and enzymes to signal in which direction development, including sex development, will take place. (can-sg.org)
Figure 1 shows genes responsible for development of the undifferentiated gonad to either a testis or an ovary. (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)
Many genes in the pseudoautosomal regions are essential for normal development. (thalitanobregaballet.com)

Some present later with abnormal pubertal development. (orpha.net)

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)

Finally, elevation of serum AMH above normal male prepubertal levels may be indicative of rare cases of sex-cord stromal tumors or Sertoli cell-limited disturbance in the McCune Albright syndrome. (biomedcentral.com)
There are many causes for this condition such as autoimmune disorders, ovarian tumors, Turner syndrome (a genetic abnormality), polycystic ovary syndrome, menopause, adrenal or thyroid disease etc. (practo.com)
There are many causes for this condition such as autoimmune disorders, germ cell tumors, Klinefelter syndrome (a genetic abnormality), viral infection such as mumps, trauma etc. (practo.com)

Low circulating levels of AMH may reflect primary testicular dysfunction, e.g. in certain patients with cryptorchidism, monorchidism, partial gonadal dysgenesis, or central hypogonadism. (biomedcentral.com)

This article is about congenital disorders in humans. (mdwiki.org)

Many patients with ovotesticular disorder of sexual development have a uterus. (medscape.com)

Myotonic Dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)

This hypothalamic-pituitary-gonadal axis evolves throughout development, from fetal life through adulthood. (biomedcentral.com)

The cause of 46,XX ovotesticular DSD is not elucidated for the majority of cases. (orpha.net)

It may result from a disorder of the testes (primary hypogonadism). (msdmanuals.com)

SRY -negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. (e-kjgm.org)
Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. (unige.ch)
Studying the prevalence of Sex chromosomal abnormalities among DSD patients.Method: Patients were subjected to detailed clinical examination, pubertal staging, cyto. (eurospe.org)

Breast disorders occurring in pediatric patients range from congenital conditions to neonatal infections and from benign disorders such as fibroadenoma in females and gynecomastia in males to breast carcinoma and rhabdomyosarcoma . (medscape.com)

Aromatase deficiency - A disorder which, in females, is characterized by androgen excess and estrogen deficiency, and can result in inappropriate virilization, though without pseudohermaphroditism (i.e., genitals are phenotypically appropriate) (with the exception of the possible incidence of clitoromegaly). (wikipedia.org)

2017). Disorders of sex development. (mhmedical.com)

Ovotestis refers to the histology of a gonad that contains both ovarian follicles and testicular tubular elements. (medscape.com)
Internal duct development usually corresponds to the adjacent gonad. (medscape.com)

In women, follicle stimulating hormone (FSH) helps in the growth of ovarian follicle and also stimulate the ovarian follicle to produce the female sex hormone, estrogen. (practo.com)
In women, LH works with follicle stimulating hormone (FSH) to stimulate the ovarian follicle to produce the female sex hormone, estrogen. (practo.com)
It has been proposed that racial/ethnic variation in prostate cancer incidence may be, in part, due to racial/ethnic variation in sex steroid hormone levels. (cdc.gov)

Diseases6

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Psychiatry and Psychology3

Phenomena and Processes1

Anthropology, Education, Sociology and Social Phenomena2

Information Science1

Health Care1

Mixed gonadal dy2

Chromosomes16

Chromosome18

DSDs9

Reversal10

Difference of sex development6

Differentiation11

Gonads7

Having both ovarian and testicular tissue1

Phenotypic sex4

Testosterone10

Tissue11

Known as testicular1

Diverse sex development1

Determination4

Diagnosis7

Differences2

Karyotype1

Atypical2

Complete gonadal dysgenesis1

Infertility3

Biological sex3

Individuals5

Characteristics2

Gonadal development3

Gene3

Genitalia2

Ovarian development1

Organs2

Phenotype1

Begins in utero2

Endocrine4

Regulated by the pituitary1

Genes4

Abnormal1

Anatomical1

Tumors3

Partial gonadal dysgenesis1

Humans1

Sexual development1

Autosomal dominant1

Pituitary1

Ovotesticular DSD1

Testes1

Clinical3

Congenital conditions1

Females1

20171

Gonad2

Hormone3