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 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.
The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.
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.
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.
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)
The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.
Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora.
The primary testis-determining gene in mammalians, located on the Y CHROMOSOME. It codes for a high mobility group box transcription factor (TRANSCRIPTION FACTORS) which initiates the development of the TESTES from the embryonic GONADS.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
The gamete-producing glands, OVARY or TESTIS.
The external and internal organs related to reproduction.
The mechanisms by which the SEX of an individual's GONADS are fixed.
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 homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
An orphan nuclear receptor that is implicated in regulation of steroidogenic pathways. It is unlike most orphan nuclear receptors in that it appears to lack an essential DNA-binding domain and instead acts as a transcriptional co-repressor. Mutations in the gene Dax-1 cause congenital adrenal hypoplasia.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Absence of menstruation.
The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.
Congenital absence of or defects in structures of the eye; may also be hereditary.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The front third of the eyeball that includes the structures between the front surface of the cornea and the front of the VITREOUS BODY.
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.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A plasticizer used in most plastics and found in water, air, soil, plants and animals. It may have some adverse effects with long-term exposure.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Pathological processes of the TESTIS.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix.

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

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

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

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

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

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

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

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

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

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

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

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.

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.

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

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

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

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

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

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

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

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.

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.

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%.

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

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

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

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

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

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

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

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

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

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.

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

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

"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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

In contrast XX gonadal dysgenesis has a normal female chromosome situation.[citation needed] Another type of XX gonadal ... The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to ... XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in an otherwise ... Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. ...
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 ... Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes. Pure gonadal ...
DNAJC19 46XX true hermaphroditism; 400045; SRY 46XY complete gonadal dysgenesis; 233420; DHH 46XY complete gonadal dysgenesis; ... SRY 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure; 612965; NR5A1 46XY gonadal dysgenesis, ... ACE Renal tubular dysgenesis; 267430; AGT Renal tubular dysgenesis; 267430; AGTR1 Renal tubular dysgenesis; 267430; REN Renal- ... CBX2 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 607080; DHH 5-fluorouracil toxicity; 274270; DPYD 6- ...
Swyer Syndrome (Pure Gonadal Dysgenesis or XY gonadal dysgenesis) is a type of hypogonadism in a person whose karyotype is 46, ... XX Testicular DSD is a condition where an individual with an XX karyotype has a male appearance. Genitalia can range from ... Mixed gonadal dysgenesis - is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex ... "Pure gonadal dysgenesis 46,XY - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-01-20. ...
Women with 46 XX gonadal dysgenesis experience primary amenorrhea with hypergonadotropic hypogonadism. There are forms of 46 xx ... gonadal dysgenesis wherein abnormalities in the FSH-receptor have been reported and are thought to be the cause of the ...
... and XX gonadal dysgenesis as PGD, 46,XX. People with PGD have a normal karyotype but may have defects of a specific gene on a ... 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 ... A familial XY gonadal dysgenesis causing high incidence of embryonic gonadal tumors- a report of the fourth dysgerminoma in ...
... see XY gonadal dysgenesis (also known as Swyer syndrome) Karyotype Disorders of sex development Intersex medical interventions ... Typically, the appearance of XX males differs from that of an XY male in that they are smaller in height and weight. Most XX ... XY Complete Gonadal Dysgenesis (Source attribution, CS1 errors: periodical ignored, Articles with short description, Short ... XX testicular DSD, and XX sex reversal. In 90 percent of these individuals, the syndrome is caused by the Y chromosome's SRY ...
... xx MeSH C13.371.820.700.842.309.388 - gonadal dysgenesis, 46,xy MeSH C13.371.820.700.842.309.391 - gonadal dysgenesis, mixed ... gonadal dysgenesis MeSH C13.371.820.700.842.309.193 - gonadal dysgenesis, 46, ...
... xx MeSH C19.391.775.309.388 - gonadal dysgenesis, 46,xy MeSH C19.391.775.309.391 - gonadal dysgenesis, mixed MeSH C19.391. ... gonadal dysgenesis MeSH C19.391.775.309.193 - gonadal dysgenesis, 46, ...
... xx MeSH C12.740.700.842.309.293 - gonadal dysgenesis, 46,xy MeSH C12.740.700.842.309.391 - gonadal dysgenesis, mixed MeSH ... gonadal dysgenesis MeSH C12.740.700.842.309.195 - gonadal dysgenesis, 46, ...
... optic atrophy 46 xx gonadal dysgenesis epibulbar dermoid, rare (NIH) 47, XXY syndrome 47, XYY syndrome 47, XXX syndrome 48, ...
... xx MeSH C16.131.939.842.309.388 - gonadal dysgenesis, 46,xy MeSH C16.131.939.842.309.391 - gonadal dysgenesis, mixed MeSH ... gonadal dysgenesis MeSH C16.131.939.842.309.193 - gonadal dysgenesis, 46, ... gonadal dysgenesis, 46,xy MeSH C16.131.260.800.345 - gonadal dysgenesis, mixed MeSH C16.131.260.800.490 - Klinefelter syndrome ... gonadal dysgenesis, 46,xy MeSH C16.320.180.800.345 - gonadal dysgenesis, mixed MeSH C16.320.180.800.490 - Klinefelter syndrome ...
XXXXX XX gonadal dysgenesis XY gonadal dysgenesis XX male syndrome This article includes a list of related items that share the ... XX/XY 47, XXX, also known as Triple X syndrome and trisomy X 47, XXY, also known as Klinefelter syndrome 47, XYY, has normal ...
XX gonadal dysgenesis (46,XX karyotype) Leydig cell agenesis or hypoplasia, not otherwise specified (46,XY karyotype) Absent ( ... 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 ... Ahmed SF, Cheng A, Hughes IA (April 1999). "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome". ...
Ford CE, Jones KW, Polani PE, de Almeida JCC, Briggs JH (1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis ( ... One of the two women first diagnosed with tetrasomy X was followed up twenty-six years later in her late fifties, by which time ... Berg JM, Karlinsky H, Korossy M, Pakula Z (1988). "Twenty-six years later: a woman with tetra-X chromosomes". Journal of Mental ... XX/47,XXX/48,XXXX/49,XXXXX. An additional differential diagnosis in some cases is Down syndrome. Some cases of tetrasomy X have ...
Causes of partial undervirilization with ambiguity included defects of testosterone synthesis, partial gonadal dysgenesis, ... Congenital Adrenal Hyperplasia: Review from a Surgeon's Perspective in the Beginning of the Twenty-First Century. Front Pediatr ... gonadal dysgenesis, and some XY infants with severe genital birth defects such as cloacal exstrophy. Masculinizing ... gonadal, or anatomical sex is atypical." The term has been controversial and not widely adopted outside clinical settings: the ...
Ford CE, Jones KW, Polani PE, de Almeida JCC, Briggs JH (1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis ( ... Six cases of trisomy X have been recorded in dogs, for which the karyotype is 79,XXX compared to 78,XX for an euploid female ... An additional dog with normal fertility and no reported behavioural issues was found to have a mosaic 78,XX/79,XXX karyotype. ... XX/47,XXX, can also be seen. The simplest form of mosaic trisomy X, with a 46,XX/47,XXX karyotype, is milder compared to full ...
A form of complete gonadal dysgenesis, mostly due to mutations in the first step of sex determination; the SRY genes. A 5-alpha ... Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX). ... Gonadal sex refers to the gonads, that is the testis or ovaries, depending on which genes are expressed. Phenotypic sex refers ... Many other genes found on other autosomes, including WT1, SOX9 and SF1 also play a role in gonadal development. Females: ...
Some degree of mosaicism is present in about 25%. Encountered karyotypes include 46XX/46XY, or 46XX/47XXY or XX & XY with SRY ... Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically. The term ... "True Hermaphroditism and Mixed Gonadal Dysgenesis in Young Children: A Clinicopathologic Study of 10 Cases". Modern Pathology. ... In ovotesticular syndrome, XX is the most common (55-80% of cases); most individuals with this form are SRY negative. Next most ...
de la, CHAPELLE (1962). "Cytogenetical and clinical observations in female gonadal dysgenesis". Acta Endocrinologica. ... XX. This was the first step towards the establishment of the XX male syndrome. It is now referred to by OMIM as 46,XX sex ... DELACHAPELLE, A; HORTLING, H; NIEMI, M; WENNSTROEM, J (1964). "XX Sex Chromosomes in a Human Male". Acta Medica Scandinavica. ... that most XX males arise as a consequence of accidental unequal recombination in the paternal meiosis, transferring the male- ...
... gonadal dysgenesis, but no adrenal insufficiency. Since then, studies have confirmed that mutations in NR5A1 in patients with ... Targeted disruption of NR5A1 (Ftzf1) in mice results in gonadal and adrenal agenesis, persistence of Mullerian structures and ... In humans, NR5A1 mutations were first described in patients with 46, XY karyotype and disorders of sex development (DSD), ... ranging from 46,XY sex reversal with primary adrenal failure to male infertility. For the first time, Bashamboo et al. (2010) ...
... when female members were affected in families with XX-female gonadal dysgenesis. However, GT198 may not be a common cause of ... "XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription". The ... 288 (46): 33387-33397. doi:10.1074/jbc.M113.485581. ISSN 0021-9258. PMC 3829185. PMID 24097974. Yang, Zheqiong; Peng, Min; ... 2004-08-20). "Positive Role of the Mammalian TBPIP/HOP2 Protein in DMC1-mediated Homologous Pairing". Journal of Biological ...
... (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, ... parenchymatous nephropathy and XX/XY mosaicism]". Arch. Fr. Pediatr. (in French). 24 (7): 729-739. PMID 4292870. Drash A, ... Males with Denys-Drash syndrome exhibit gonadal dysgenesis and undescended testes. Females with Denys-Drash syndrome typically ... causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome". Pediatr. Nephrol. 26 (8): ...
Y gonadal dysgenesis, a disorder of sex development, had a deletion of 8 of the 9 c2orf80 exons, and an interstitial ... XY gonadal dysgenesis, and a possible association with blood pressure. The c2orf80 gene is located on the negative sense strand ... XY gonadal dysgenesis identified by a customized 1 M array-CGH platform". European Journal of Medical Genetics. 56 (12): 661- ... 20 (1): 695. doi:10.1186/s12864-019-6066-6. PMC 6724290. PMID 31481029. "PSORT II Prediction". psort.hgc.jp. Retrieved 2021-12- ...
Such disorders include partial or complete gonadal dysgenesis, ovotesticular DSD, testicular DSD and sex reversal. Genital ... The effects of excessive androgens differ in fetuses with XX chromosome (female) and XY chromosomes (male). In XX chromosome ... XY gonadal dysgenesis. Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X ... "Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management". Journal of Pediatric Urology. 12 (6): ...
The SF-1 protein, on its own, leads to minimal transcription of the SOX9 gene in both the XX and XY bipotential gonadal cells ... XY gonadal dysgenesis: its relevance to the understanding of sex differentiation". Medicine. 70 (6): 375-83. doi:10.1097/ ... "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis". ... Comparably, if SRY is not present for XX, there will be a lack of the SRY based on no Y chromosome. The lack of SRY will allow ...
"A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". Lancet. 273 (7075): 711-3. doi:10.1016/S0140- ... "Usually girls have XX chromosomes and boys have XY, but this killer is XYY, which means too much testosterone." Among other ... In a summary of six prospective studies of 47,XYY boys identified by newborn screening programmes, twenty-eight 47,XYY boys had ... the first twenty-five years". Am J Hum Genet. 34 (5): 689-98. PMC 1685430. PMID 6751075. Harper, Peter S. (2006). "The sex ...
The main differentials for CAIS are complete gonadal dysgenesis (Swyer syndrome) and Müllerian agenesis (Mayer-Rokitansky- ... which in individuals with the XX karyotype had earlier become ovaries, but in XY individuals typically had become testicles due ... The incidence of gonadal tumors in childhood is thought to be relatively low; a recent review of the medical literature found ... This results not only in infertility in individuals with CAIS, but also presents a risk of gonadal cancer later on in life. ...
Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH (April 1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis ... XX or XY) in most people, it only affects women. Signs and symptoms vary among those affected. Often, a short and webbed neck, ... December 2011). "OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner ... XX women aged 60, on average. Cohort studies imply hearing loss may be more common in women who also have metabolic syndrome. ...
... holds that Short was unable to have sexual intercourse because of a congenital defect that resulted in gonadal dysgenesis, also ... p. 20 - via Newspapers.com. "Jean Spangler Believed Victim in 'Dahlia' Series". St. Louis Star and Times. October 12, 1949. "TV ... Newton 2009, p. 46. Gilmore 2006, p. 138. Gilmore 2006, pp. 124-125. U.S. Federal Bureau of Investigation 2008, p. 43. Haugen ... Haugen 2010, p. 20. Haugen 2010, p. 23. Haugen 2010, p. 25. Katz 2010, p. 186. Greenblatt, Alan (September 30, 2009). "What is ...
In contrast XX gonadal dysgenesis has a normal female chromosome situation.[citation needed] Another type of XX gonadal ... The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to ... XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in an otherwise ... Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. ...
Gonadal dysgenesis, XX type, with deafness, see Perrault syndrome. *Gonadotrophin-independent precocious puberty, see Familial ... Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance, see Perrault syndrome. *Gonadal dysgenesis with ...
XX type of pure gonadal dysgenesis appears to be associated with increased risk of gonadal malignancy. Therapy in these ... Partial gonadal dysgenesis. Partial gonadal dysgenesis can be classified as either 46,XY DSD or sex chromosome DSD if there is ... XX type of pure gonadal dysgenesis appears to have an autosomal recessive transmission, and the 46,XY type is apparently an X- ... Pure gonadal dysgenesis. This class of DSD, with bilateral streak gonads appearing as ovarian stroma without oocytes, usually ...
XX true hermaphrodites and one 45,X mixed gonadal … ... XX true hermaphrodites and one 45,X mixed gonadal dysgenesis ... XX true hermaphrodite is positive for the Y pseudoautosomal boundary Hum Genet. 1990 Oct;85(6):666-8. doi: 10.1007/BF00193595. ... XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. This case provides further evidence for ... A reanalysis of these cases shows them all to lack ZFY, but one 46, ...
XX gonadal dysgenesis XX male syndrome 46, XX gonadal sex reversal XX sex reversal ... XX testicular disorder of sex development Also known as: 46,XX testicular DSD 46, ... Also known as: Autosomal dominant intellectual disability 20 Chromosome 5q14.3 deletion syndrome Monosomy 5q14.3 Del(5)(q14.3) ... Mental retardation, autosomal dominant 20 5q14.3 deletion syndrome GARD Summary 6-pyruvoyl-tetrahydropterin synthase deficiency ...
Turner syndrome is also sometimes called gonadal dysgenesis. It occurs in around one in 2,500 live female births. There is no ... Most patients are 45X karyotype, but about 15% are mosaics (45X/46XX or 45X/47XXX); 99% of fetuses with 45X karyotype ... Gonadal failure is treated with estrogens and progesterone. Starting estrogen too early or using doses that are too high can ... Cardiovascular complications can occur in around 20% of patients with Turner syndrome (see box). Renal malformations can also ...
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 ...
Gonadal dysgenesis patients with Y chromosomal material are subject to increased risk for germ cell tumors. We report a case of ... G-banding at diagnosis showed 51,XX,t(11;16)(q13;p11.2),+r1,+mar1×4. Spectral karyotyping confirmed t(11;16) and revealed that ... The median follow-up time was 20 months (range: 1-132 months). At the end of the follow-up, 8 patients were alive, 2 patients ... 2019; 37(1):46-65 [PubMed] Article available free on PMC after 02/01/2020 Related Publications ...
SRY and Dax-1 appear to act antagonistically in gonadal dysgenesis (Parker et al., 1999; Roberts et al., 1999~. Dax-1 ... All human individuals whether they have an XX, an XY, or an atypi- cal sex chromosome combination begin development from the ... XY gonadal dysgenesis with resulting female differentiation has oc- curred in 46,XY individuals with intact SRY function but ... Camptomelic dysplasia is a skeletal dysplasia associated with sex reversal because of gonadal dysgenesis in about 60 percent of ...
Mixed Gonadal Dysgenesis. Mixed gonadal dysgenesis occurs in children who have a chromosomal abnormality that causes them to be ... An XY chromosome pair is typical for a male and an XX chromosome pair is typical for a female. Gender refers to the personality ... 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 ...
A 25 year old woman with gonadal dysgenesis but no other somatic features of Turners syndrome was found to have a 45,X/46, ... XX/47,XXX mosaic. ...
Gonadal dysgenesis. *Testicular regression syndromes. Differential Diagnosis for the 46XX, Virilized Female. *Congenital ... If the Y chromosome, SRY gene and TDF are absent (XX female), then the lack of testosterone and presence of maternal estrogens ... Exceptions include AIS and complete gonadal dysgenesis. *46 XX DSD females can be raised as females; those with extensive ... XX - female or XY - male). This incongruence can often manifest as external genitalia that are neither overtly male nor female ...
mixed gonadal dysgenesis DOID:14449 * Uterine leiomyoma HP:0000131 * epithelioid trophoblastic tumor ...
Gonadal Dysgenesis, 46,XX 1 0 Hearing Loss 1 0 Note: The number of publications displayed in this table will differ from the ...
A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are generated with Walking RDF and OWL method ...
Xy Partial Gonadal Dysgenesis. Decreased fertility in females, Primary amenorrhea, Hypergonadotropic hypogonadism, Azoospermia ...
i) Turners syndrome (45X0), (45X/46XX),. (ii) Gonadal dysgenesis 46XX, 46XY,. (iii) Trisomy 18 and 13, ...
XX Gonadal Dysgenesis 57% 3 被引用数 (Scopus) * 2021 A case of abdominal compartment syndrome caused by amniotic fluid embolism ... 20 weeks of gestation in Japan. Ohkuchi, A., Suzuki, H., Matsubara, K., Watanabe, K., Saitou, T., Oda, H., Obata, S., Kondo, S ... 20, 1, p. 3-12 10 p.. 研究成果: Article › 査読 ... 20, 1, 130.. 研究成果: Article › 査読 ...
XX Gonadal dysgenesis epibulbar dermoid From NCATS Genetic and Rare Diseases Information Center ...
XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL. Echinobase Genes: wnt4 Human Disease Resource: OMIM ...
Definition: A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of ... XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11 ... 46,XY or female individual with a normal 46, ...
XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive ... Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic ... GeneticGonadal DisordersTetraploidyGonadal Dysgenesis, 46,XXColonic NeoplasmsPrecancerous ConditionsChromosome DeletionSyndrome ... Gonadal dysgenesis, also known as Turner syndrome, is a rare genetic disorder that affects females and is caused by a missing ...
Disorders of gonadal (testis) development. Complete or partial gonadal dysgenesis (e.g., SRY, SOX9, SF1, WT1, DHH, GATA4/ZFPM2 ... XX/46,XY (chimerism/mosaicism). ... DISORDERS OF GONADAL AND PHENOTYPIC SEX * 46,XY DSD * OTHER ... 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, ...
Complete or partial gonadal dysgenesis (e.g., SRY, SOX9, SF1, WT1, DHH, MAP3K1) ... XX DSD (SEE TABLE 10-4). 47,XXY (Klinefelters syndrome and variants) ... 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, ...
XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it ... XX gonadal dysgenesis syndrome. MedGen UID: 461506. •Concept ID: C3150156. •. Disease or Syndrome. ... XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of ... less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of ...
XX type of pure gonadal dysgenesis appear to be associated with increased risk of gonadal malignancy. Therapy in these children ... Partial gonadal dysgenesis. Partial gonadal dysgenesis can be classified as either 46,XY DSD or sex chromosome DSD if there is ... Salle B, Hedinger C. Gonadal histology in children with male pseudohermaphroditism and mixed gonadal dysgenesis. Acta ... XX type of pure gonadal dysgenesis appears to have an autosomal recessive transmission, and the 46,XY type is apparently an X- ...
XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of ... XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory ... XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of ... XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory ...
... partial gonadal dysgenesis (n=3/24; 12%) and 3betaHSD2 (n=1/3; 33%). Both cases of male to female (M to F) GD occurred in ... XY DSD and occurred only in partial gonadal dysgenesis patients ... partial gonadal dysgenesis (8%; n=2/24). The median of GD age ( ... Female to Male GD is common in 46,XY DSD raised in female social sex, especially in 5ARD2 and 17?HSD3 deficiencies. There is a ... In 46,XY DSD individuals a variety of factors may jeopardize an adequate psychosexual development and sometimes results in ...
Pure gonadal dysgenesis. * Q99.2 Fragile X chromosome Inclusion term(s):. *Fragile X syndrome ... XX/46, XY Inclusion term(s):. *Chimera 46, XX/46, XY true hermaphrodite ...
  • 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)
  • Other types of X-Y translocations associated with anomalies of sex differentiation include Xp-Yq translocations, which result in a functional disomy of Xp sequences including the DSS locus and are associated with 46,XY complete or partial gonadal dysgenesis. (pasteur.fr)
  • as partial gonadal dysgenesis. (nih.gov)
  • XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. (wikipedia.org)
  • however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended. (wikipedia.org)
  • The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). (wikipedia.org)
  • 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)
  • A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. (bmj.com)
  • A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. (reference.md)
  • However, because of functioning normal ovarian tissue, most people experience breast development at puberty, and approximately two-thirds of those with a 46,XX peripheral karyotype menstruate. (medscape.com)
  • is seminiferous tubule dysgenesis associated with the 47,XXY karyotype, in which an extra X chromosome is acquired through maternal or, to a lesser extent, paternal meiotic nondisjunction. (msdmanuals.com)
  • chromosome pattern (46,XY karyotype), but they have external genitalia that do not look clearly male or clearly female or other abnormalities of the genitals and reproductive organs. (nih.gov)
  • SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)
  • Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)
  • They are characterized by the presence of dysgenetic testis and/or streak gonads, with persistence of the Müllerian ducts and inadequate virilization, and classically have a 45,X/46,XY karyotype. (biomedcentral.com)
  • Sex development starts with the initial setting of either a 46,XX or a 46,XY karyotype. (e-apem.org)
  • In contrast XX gonadal dysgenesis has a normal female chromosome situation. (wikipedia.org)
  • If the Y chromosome, SRY gene and TDF are absent (XX female), then the lack of testosterone and presence of maternal estrogens stimulate the development of female external genitalia. (uchicago.edu)
  • 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)
  • 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)
  • Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. (pasteur.fr)
  • Three classes of XX males have been defined on the basis of the extent of Y material transferred to the X chromosome. (pasteur.fr)
  • Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
  • The gender of a developing baby is determined at conception, when the embryo has either two XX chromosomes, or an X and a Y chromosome. (chkd.org)
  • The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
  • According to the Chicago classification (2006), DSDs can be classified into 3 categories: sex chromosome DSDs, which include Turner syndrome and Klinefelter syndrome, as well as 45,X/46,XY and 46,XX/46,XY variants. (e-apem.org)
  • 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 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)
  • Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
  • 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)
  • 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)
  • 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)
  • We report three rare cases of SRY -negative 46,XX testicular disorders of sex development. (e-kjgm.org)
  • These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY gene. (e-kjgm.org)
  • DSDs range from common disorders like cryptorchidism to very rare and complex conditions like complete XX or XY sex reversal. (e-apem.org)
  • 46,XY and 46,XX DSDs can be further subdivided into the subclasses of disorders of gonadal development, disorders of androgen biosynthesis and excess, and unclassified. (e-apem.org)
  • 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)
  • 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)
  • 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)
  • however, overtly ambiguous genitalia may occur in one in 4,500 live births, and complete XX or XY sex reversal with unequivocal male or female phenotype at birth is estimated to exist in one in 20,000 live births [ 2 ]. (e-apem.org)
  • 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)
  • 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)
  • Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)
  • citation needed] Another type of XX gonadal dysgenesis is known as 46,XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid (eye disorder). (wikipedia.org)
  • citation needed] The consequences to the girl with XX gonadal dysgenesis:[citation needed] Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. (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)
  • A disorder of sex development (DSD) occurs when there is incongruence between a child's external genitalia, gonads (ovaries or testes) and chromosomal sex (XX - female or XY - male). (uchicago.edu)
  • In the XX newborn, gonads are not palpable, which classically leads to the diagnosis of female pseudohermaphroditism. (health.am)
  • Perrault syndrome is a sex-influenced disorder that is characterized by progressive, sensorineural deafness coupled with ovarian dysgenesis or premature ovarian failure (streak gonads), amenorrhea, and infertility in females. (preventiongenetics.com)
  • The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
  • Ovarian ultrasonography can be useful in the workup of patients with primary ovarian insufficiency, as it will identify those women with multifollicular ovaries and suggest the diagnosis of either autoimmune oophoritis or 17-20 desmolase deficiency. (medscape.com)
  • Definitive diagnosis is based on gonadal histology (testicular and ovarian tissue). (orpha.net)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Some forms of XX gonadal dysgenesis occurs with sensorineural deafness. (wikipedia.org)
  • 12 ] described the first two NR5A1 variants in individuals with 46,XY DSD who presented primary adrenal insufficiency and complete gonadal dysgenesis. (biomedcentral.com)
  • At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis. (wikipedia.org)
  • A gonadal biopsy may ultimately be necessary for the diagnosis. (uchicago.edu)
  • 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)
  • Diagnosis is by measurement of gonadal hormones (testosterone and/or estradiol), luteinizing hormone, and follicle-stimulating. (msdmanuals.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)
  • In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. (wikipedia.org)
  • Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)
  • SF-1 and WT-1 have influence over gonadal development and subsequent endocrine communication to the Wolffian (mesonephric-blue) and Müllerian (paramesonephric-orange) ducts. (pediatricurologybook.com)
  • 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)
  • Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. (pasteur.fr)
  • The development of a mammalian embryo into either female or male is primarily dependent on the sex chromosomal constitution, being XX and XY respectively. (biomedcentral.com)
  • 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)
  • Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
  • The chromosomes are referenced as 46, XX, for a normal female or 46, XY, for a normal male. (choc.org)
  • You have 46 chromosomes in each cell of your body. (chkd.org)
  • The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. (wikipedia.org)
  • Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. (wikipedia.org)
  • Turner syndrome is also sometimes called gonadal dysgenesis. (gponline.com)
  • Cardiovascular complications can occur in around 20% of patients with Turner syndrome (see box). (gponline.com)
  • Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.com)
  • These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
  • Kurnaz E, Kartal Baykan E, Türkyılmaz A, Yaralı O, Yavaş Abalı Z, Turan S, Bereket A, Çayır A, Guran T. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency. (abdullahbereket.com)
  • An estimated 15% of couples meet this criterion and are considered infertile, with approximately 35% due to female factors alone, 30% due to male factors alone, 20% due to a combination of female and male factors, and 15% unexplained. (medscape.com)
  • Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic. (bmj.com)
  • citation needed] Familial cases of XX gonadal dysgenesis are on record. (wikipedia.org)
  • A reanalysis of these cases shows them all to lack ZFY, but one 46,XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. (nih.gov)
  • Malignant gonadal tumors are rare (less than 3% of cases). (orpha.net)
  • The cause of 46,XX ovotesticular DSD is not elucidated for the majority of cases. (orpha.net)
  • In rare cases Yp-Xq translocations have been described in association with 46,XX maleness. (pasteur.fr)
  • Apparently either the germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia so that at the end of childhood only a streak gonad is present, unable to induce pubertal changes. (wikipedia.org)
  • Recurring supersecondary structures characterized by 20 amino acids folding into two alpha helices connected by a non-helical "loop" segment. (lookformedical.com)
  • Gonadal failure is treated with estrogens and progesterone. (gponline.com)
  • About 20% of affected individuals are diagnosed before 5 years of age. (orpha.net)