Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
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.
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.
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.
Clinical treatments used to change the physiological sexual characteristics of an individual.
Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).
Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.
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 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.
Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
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 stages of development of the psychological aspects of sexuality from birth to adulthood; i.e., oral, anal, genital, and latent periods.
The external and internal organs related to reproduction.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
A microsomal cytochrome P450 enzyme that catalyzes the 17-alpha-hydroxylation of progesterone or pregnenolone and subsequent cleavage of the residual two carbons at C17 in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP17 gene, generates precursors for glucocorticoid, androgen, and estrogen synthesis. Defects in CYP17 gene cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL) and abnormal sexual differentiation.
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.
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
Mapping of the KARYOTYPE of a cell.
Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.
Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.
Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.
Persistent and disabling ANXIETY.
Those disorders that have a disturbance in mood as their predominant feature.
A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.
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.
An infant during the first month after birth.

Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency. (1/31)

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High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia. (2/31)

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Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. (3/31)

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Utero-vaginal aplasia (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. (4/31)

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The aetiology behind torticollis and variable spine defects in patients with Mullerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis. (5/31)

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A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients. (6/31)

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Etiological classification and clinical assessment of children and adolescents with disorders of sex development. (7/31)

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Evaluation of SHOX copy number variations in patients with Mullerian aplasia. (8/31)

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'46, XX Disorders of Sex Development' (DSD) is a medical term used to describe individuals who have typical female chromosomes (46, XX) but do not develop typical female physical characteristics. This condition is also sometimes referred to as 'Complete Androgen Insensitivity Syndrome' (CAIS).

Individuals with 46, XX DSD/CAIS have testes instead of ovaries, and they typically do not have a uterus or fallopian tubes. They usually have female external genitalia that appear normal or near-normal, but they may also have undescended testes or inguinal hernias. Because their bodies are insensitive to androgens (male hormones), they do not develop male physical characteristics such as a penis or facial hair.

Individuals with 46, XX DSD/CAIS are typically raised as females and may not become aware of their condition until puberty, when they do not menstruate or develop secondary sexual characteristics such as breasts. Treatment for this condition typically involves surgery to remove the undescended testes and hormone replacement therapy to promote the development of secondary sexual characteristics.

It's important to note that individuals with 46, XX DSD/CAIS can live healthy and fulfilling lives, but they may face unique challenges related to their gender identity, sexuality, and fertility. It is essential to provide these individuals with comprehensive medical care, emotional support, and access to resources and information to help them navigate these challenges.

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

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

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

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

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

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

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.

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

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

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

Sex reassignment procedures, also known as gender confirmation surgery or sex change surgery, refer to surgical procedures that aim to alter a person's physical appearance and sexual characteristics to match their gender identity. These procedures can include a variety of surgeries such as genital reconstruction, chest reconstruction (for transgender women), hysterectomy, oophorectomy, orchidectomy, and metoidioplasty or phalloplasty (for transgender men). It is important to note that sex reassignment procedures are just one aspect of the transition process for many transgender individuals, which may also include hormone therapy, legal name changes, and social transitions.

'46, XX Testicular Disorders of Sex Development' (DSD) is a medical condition where an individual is genetically female (has two X chromosomes) but has testes instead of ovaries, and typically has a male or ambiguous phenotypic appearance. This condition results from disorders in the hormonal regulation of sexual differentiation during fetal development.

Individuals with 46, XX DSD may have typical male external genitalia, atypical genitalia, or female external genitalia with underdeveloped labia and a clitoris that resembles a small penis. They usually do not have a uterus or fallopian tubes, but they may have a vagina.

The condition is often diagnosed in infancy or early childhood due to the presence of ambiguous genitalia or inguinal hernias (which can contain testicular tissue). In some cases, it may not be diagnosed until puberty when the individual fails to menstruate and has a lack of secondary sexual characteristics such as breast development.

Treatment for 46, XX DSD typically involves surgical removal of the testes to prevent the risk of gonadal tumors, hormone replacement therapy to promote the development of secondary sexual characteristics, and psychological support to help individuals cope with issues related to gender identity and sexual orientation.

Virilism is a condition that results from excessive exposure to androgens (male hormones) such as testosterone. It can occur in both males and females, but it is more noticeable in women and children. In females, virilism can cause various masculinizing features like excess body hair, deepened voice, enlarged clitoris, and irregular menstrual cycles. In children, it can lead to premature puberty and growth abnormalities. Virilism is often caused by conditions that involve the adrenal glands or ovaries, including tumors, congenital adrenal hyperplasia, and certain medications.

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.

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.

Ovotesticular Disorders of Sex Development (OT-DSD), also known as true gonadal intersex, are rare conditions where the individual has both ovarian and testicular tissue in their gonads. This condition is characterized by the presence of both ovarian and testicular structures in the same person, which can be found in various combinations and locations within the body.

Individuals with OT-DSD may have varying degrees of development of internal reproductive organs (such as the uterus, fallopian tubes, or vas deferens) and external genitalia that may not clearly fit typical definitions of male or female. The chromosomal patterns in these individuals can also vary, with 46,XX, 46,XY, or mosaic karyotypes (a combination of both).

The diagnosis of OT-DSD is typically made during infancy, adolescence, or adulthood, depending on the individual's presentation. Treatment usually involves surgical management of the gonads and genitalia, hormone replacement therapy, and psychological support for the person and their family. The ultimate goal is to help the individual establish a gender identity that aligns with their personal sense of self while ensuring their physical health and well-being.

Antley-Bixler syndrome phenotype is a medical term used to describe a set of physical features that are characteristic of Antley-Bixler syndrome, a rare genetic disorder. The syndrome is caused by mutations in the genes that provide instructions for making proteins involved in the development of bones and other tissues in the body.

The Antley-Bixler syndrome phenotype typically includes:

1. Craniosynostosis: This is a condition where the bones in the skull fuse together prematurely, leading to an abnormally shaped head.
2. Abnormalities of the face and skull: These may include a prominent forehead, wide-set eyes, a beaked nose, and low-set ears.
3. Bone abnormalities: These may include bowed or bent limbs, fusion of bones in the hands and feet, and other skeletal malformations.
4. Respiratory problems: Some individuals with Antley-Bixler syndrome may have narrow airways, which can lead to breathing difficulties.
5. Genital abnormalities: In some cases, males with Antley-Bixler syndrome may have undescended testicles.

It is important to note that not all individuals with Antley-Bixler syndrome will have all of these features, and the severity of the condition can vary widely from person to person. If you suspect that your child may have Antley-Bixler syndrome, it is important to consult with a medical professional for further evaluation and diagnosis.

Androgen Insensitivity Syndrome (AIS) is a genetic condition that occurs in individuals who are genetically male (have one X and one Y chromosome) but are resistant to androgens, which are hormones that play a role in male sexual development. This resistance is caused by changes (mutations) in the gene for the androgen receptor.

There are three main types of AIS: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS).

In CAIS, individuals are completely resistant to androgens, which results in the development of female external genitalia at birth. Despite having testes, these individuals do not have a functioning male reproductive system and typically have a female gender identity. They may be diagnosed during adolescence when they do not begin to menstruate or experience other signs of puberty.

In PAIS and MAIS, the degree of androgen insensitivity varies, resulting in a range of physical characteristics that can include both male and female features. These individuals may have ambiguous genitalia at birth, and their gender identity may not align with their genetic sex.

It's important to note that people with AIS are typically healthy and do not have an increased risk of medical conditions beyond those related to their hormonal differences. However, they may face challenges related to their gender identity, sexual development, and fertility. It is recommended that individuals with AIS receive comprehensive medical care and support from a team of healthcare professionals who specialize in this condition.

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.

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.

Psychosexual development refers to the theory of personality development in which an individual's sexual desires and behaviors are shaped by their experiences and relationships, particularly during childhood and adolescence. This concept was first introduced by Sigmund Freud as part of his psychoanalytic theory. According to Freud, psychosexual development occurs in five stages: oral, anal, phallic, latent, and genital.

During each stage, the individual derives pleasure from a different erogenous zone, and their experiences and relationships during this time can have lasting effects on their sexual desires and behaviors later in life. For example, unresolved conflicts during the phallic stage, which is centered around the genitals, may lead to issues with sexual intimacy and relationships in adulthood.

It's important to note that while Freud's theory of psychosexual development has been influential in the field of psychology, it is not universally accepted and has been criticized for its lack of empirical evidence and cultural bias.

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.

Disorders/Differences of Sex Development (DSDs) related to sex chromosomes are conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. These disorders are caused by differences in the number or structure of the sex chromosomes (X and Y). Some examples of DSDs related to sex chromosomes include:

1. Turner Syndrome (45,X): This condition occurs when an individual has only one X chromosome instead of the typical pair. Affected individuals typically have female physical characteristics but may have short stature, webbed neck, and other features. They usually have underdeveloped ovaries and are unable to menstruate or bear children without medical intervention.

2. Klinefelter Syndrome (47,XXY): This condition occurs when an individual has an extra X chromosome, resulting in a total of 3 sex chromosomes (XXY). Affected individuals typically have male physical characteristics but may have reduced fertility, breast development, and other features.

3. Triple X Syndrome (47,XXX): This condition occurs when an individual has an extra X chromosome, resulting in a total of 3 sex chromosomes (XXX). Affected individuals typically have normal female physical characteristics but may have learning disabilities and other developmental delays.

4. Jacobs Syndrome (47,XYY): This condition occurs when an individual has an extra Y chromosome, resulting in a total of 3 sex chromosomes (XYY). Affected individuals typically have normal male physical characteristics but may have learning disabilities and other developmental delays.

5. Other variations such as 45,X/46,XY mosaicism or 46,XX/46,XY true hermaphroditism can also occur, leading to a range of physical and developmental characteristics that may not fit typical definitions of male or female.

It's important to note that individuals with DSDs should receive comprehensive medical care from a team of specialists who can provide individualized treatment plans based on their specific needs and circumstances.

Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, which are triangular-shaped glands located on top of the kidneys. The adrenal glands are responsible for producing several essential hormones, including cortisol, aldosterone, and androgens.

CAH is caused by mutations in genes that code for enzymes involved in the synthesis of these hormones. The most common form of CAH is 21-hydroxylase deficiency, which affects approximately 90% to 95% of all cases. Other less common forms of CAH include 11-beta-hydroxylase deficiency and 3-beta-hydroxysteroid dehydrogenase deficiency.

The severity of the disorder can vary widely, depending on the degree of enzyme deficiency. In severe cases, the lack of cortisol production can lead to life-threatening salt wasting and electrolyte imbalances in newborns. The excess androgens produced due to the enzyme deficiency can also cause virilization, or masculinization, of female fetuses, leading to ambiguous genitalia at birth.

In milder forms of CAH, symptoms may not appear until later in childhood or even adulthood. These may include early puberty, rapid growth followed by premature fusion of the growth plates and short stature, acne, excessive hair growth, irregular menstrual periods, and infertility.

Treatment for CAH typically involves replacing the missing hormones with medications such as hydrocortisone, fludrocortisone, and/or sex hormones. Regular monitoring of hormone levels and careful management of medication doses is essential to prevent complications such as adrenal crisis, growth suppression, and osteoporosis.

In severe cases of CAH, early diagnosis and treatment can help prevent or minimize the risk of serious health problems and improve quality of life. Genetic counseling may also be recommended for affected individuals and their families to discuss the risks of passing on the disorder to future generations.

Steroid 17-alpha-hydroxylase, also known as CYP17A1, is a cytochrome P450 enzyme that plays a crucial role in steroid hormone biosynthesis. It is located in the endoplasmic reticulum of cells in the adrenal glands and gonads. This enzyme catalyzes the 17-alpha-hydroxylation and subsequent lyase cleavage of pregnenolone and progesterone, converting them into dehydroepiandrosterone (DHEA) and androstenedione, respectively. These steroid intermediates are essential for the biosynthesis of both glucocorticoids and sex steroids, including cortisol, aldosterone, estrogens, and testosterone.

Defects in the CYP17A1 gene can lead to several disorders, such as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency, which is characterized by decreased production of cortisol and sex steroids and increased mineralocorticoid levels. This condition results in sexual infantilism, electrolyte imbalances, and hypertension.

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.

Bipolar disorder, also known as manic-depressive illness, is a mental health condition that causes extreme mood swings that include emotional highs (mania or hypomania) and lows (depression). When you become depressed, you may feel sad or hopeless and lose interest or pleasure in most activities. When your mood shifts to mania or hypomania (a less severe form of mania), you may feel euphoric, full of energy, or unusually irritable. These mood swings can significantly affect your job, school, relationships, and overall quality of life.

Bipolar disorder is typically characterized by the presence of one or more manic or hypomanic episodes, often accompanied by depressive episodes. The episodes may be separated by periods of normal mood, but in some cases, a person may experience rapid cycling between mania and depression.

There are several types of bipolar disorder, including:

* Bipolar I Disorder: This type is characterized by the occurrence of at least one manic episode, which may be preceded or followed by hypomanic or major depressive episodes.
* Bipolar II Disorder: This type involves the presence of at least one major depressive episode and at least one hypomanic episode, but no manic episodes.
* Cyclothymic Disorder: This type is characterized by numerous periods of hypomania and depression that are not severe enough to meet the criteria for a full manic or depressive episode.
* Other Specified and Unspecified Bipolar and Related Disorders: These categories include bipolar disorders that do not fit the criteria for any of the other types.

The exact cause of bipolar disorder is unknown, but it appears to be related to a combination of genetic, environmental, and neurochemical factors. Treatment typically involves a combination of medication, psychotherapy, and lifestyle changes to help manage symptoms and prevent relapses.

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.

"Sex factors" is a term used in medicine and epidemiology to refer to the differences in disease incidence, prevalence, or response to treatment that are observed between males and females. These differences can be attributed to biological differences such as genetics, hormones, and anatomy, as well as social and cultural factors related to gender.

For example, some conditions such as autoimmune diseases, depression, and osteoporosis are more common in women, while others such as cardiovascular disease and certain types of cancer are more prevalent in men. Additionally, sex differences have been observed in the effectiveness and side effects of various medications and treatments.

It is important to consider sex factors in medical research and clinical practice to ensure that patients receive appropriate and effective care.

A mental disorder is a syndrome characterized by clinically significant disturbance in an individual's cognition, emotion regulation, or behavior. It's associated with distress and/or impaired functioning in social, occupational, or other important areas of life, often leading to a decrease in quality of life. These disorders are typically persistent and can be severe and disabling. They may be related to factors such as genetics, early childhood experiences, or trauma. Examples include depression, anxiety disorders, bipolar disorder, schizophrenia, and personality disorders. It's important to note that a diagnosis should be made by a qualified mental health professional.

"Sex characteristics" refer to the anatomical, chromosomal, and genetic features that define males and females. These include both primary sex characteristics (such as reproductive organs like ovaries or testes) and secondary sex characteristics (such as breasts or facial hair) that typically develop during puberty. Sex characteristics are primarily determined by the presence of either X or Y chromosomes, with XX individuals usually developing as females and XY individuals usually developing as males, although variations and exceptions to this rule do occur.

Anxiety disorders are a category of mental health disorders characterized by feelings of excessive and persistent worry, fear, or anxiety that interfere with daily activities. They include several different types of disorders, such as:

1. Generalized Anxiety Disorder (GAD): This is characterized by chronic and exaggerated worry and tension, even when there is little or nothing to provoke it.
2. Panic Disorder: This is characterized by recurring unexpected panic attacks and fear of experiencing more panic attacks.
3. Social Anxiety Disorder (SAD): Also known as social phobia, this is characterized by excessive fear, anxiety, or avoidance of social situations due to feelings of embarrassment, self-consciousness, and concern about being judged or viewed negatively by others.
4. Phobias: These are intense, irrational fears of certain objects, places, or situations. When a person with a phobia encounters the object or situation they fear, they may experience panic attacks or other severe anxiety responses.
5. Agoraphobia: This is a fear of being in places where it may be difficult to escape or get help if one has a panic attack or other embarrassing or incapacitating symptoms.
6. Separation Anxiety Disorder (SAD): This is characterized by excessive anxiety about separation from home or from people to whom the individual has a strong emotional attachment (such as a parent, sibling, or partner).
7. Selective Mutism: This is a disorder where a child becomes mute in certain situations, such as at school, but can speak normally at home or with close family members.

These disorders are treatable with a combination of medication and psychotherapy (cognitive-behavioral therapy, exposure therapy). It's important to seek professional help if you suspect that you or someone you know may have an anxiety disorder.

Mood disorders are a category of mental health disorders characterized by significant and persistent changes in mood, affect, and emotional state. These disorders can cause disturbances in normal functioning and significantly impair an individual's ability to carry out their daily activities. The two primary types of mood disorders are depressive disorders (such as major depressive disorder or persistent depressive disorder) and bipolar disorders (which include bipolar I disorder, bipolar II disorder, and cyclothymic disorder).

Depressive disorders involve prolonged periods of low mood, sadness, hopelessness, and a lack of interest in activities. Individuals with these disorders may also experience changes in sleep patterns, appetite, energy levels, concentration, and self-esteem. In severe cases, they might have thoughts of death or suicide.

Bipolar disorders involve alternating episodes of mania (or hypomania) and depression. During a manic episode, individuals may feel extremely elated, energetic, or irritable, with racing thoughts, rapid speech, and impulsive behavior. They might engage in risky activities, have decreased sleep needs, and display poor judgment. In contrast, depressive episodes involve the same symptoms as depressive disorders.

Mood disorders can be caused by a combination of genetic, biological, environmental, and psychological factors. Proper diagnosis and treatment, which may include psychotherapy, medication, or a combination of both, are essential for managing these conditions and improving quality of life.

Testosterone is a steroid hormone that belongs to androsten class of hormones. It is primarily secreted by the Leydig cells in the testes of males and, to a lesser extent, by the ovaries and adrenal glands in females. Testosterone is the main male sex hormone and anabolic steroid. It plays a key role in the development of masculine characteristics, such as body hair and muscle mass, and contributes to bone density, fat distribution, red cell production, and sex drive. In females, testosterone contributes to sexual desire and bone health. Testosterone is synthesized from cholesterol and its production is regulated by luteinizing hormone (LH) and follicle-stimulating hormone (FSH).

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.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes ... XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete ... XX testicular disorder of sex development. About 20 percent of those with 46 XX testicular disorder of sex development do not ... XX testicular disorder of sex development are more likely to have ambiguous genitalia than are people with the SRY-positive ...
XX testicular disorder of sex development". Rare Disease Database. National Organization for Rare Disorders (NORD). Retrieved ... Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in ... "Disorders of Sex Development". Organisation Intersex International Australia. "Why Not "Disorders of Sex Development"?". UK ... Beh H, Diamond M (2006). "Variations of Sex Development Instead of Disorders of Sex Development". Archives of Disease in ...
XX Testicular Disorder of Sex Development OMIM entries on 46,XX Testicular Disorder of Sex Development Genes,+sry at the U.S. ... XX testicular disorder of sex development". Genetics Home Reference. National Library of Medicine, National Institutes of ... Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and ... Mutations of SF1 can lead to sex reversal, and deletion can lead to incomplete gonad development. However, it is not clear how ...
XX testicular disorder of sex development, also called XX male syndrome, is a condition in which individuals with two X ... XX testicular disorder of sex development". Genetics Home Reference. U.S. National Library of Medice. Archived from the ... XX testicular disorder of sex development, the condition results from an exchange of genetic material between chromosomes ( ... and a sex-reversed XX man was that the typical individuals lacked the SRY gene. It is theorized that in sex-reversed XX men, ...
"The Genetics of Ovotesticular Disorders of Sex Development". Genetic Steroid Disorders. pp. 261-263. doi:10.1016/B978-0-12- ... Some degree of mosaicism is present in about 25%. Encountered karyotypes include 46XX/46XY, or 46XX/47XXY or XX & XY with SRY ... Less than 1% have XX/XY chimerism. True hermaphroditism represents 5% of all sex disorder differentiations. The exact number of ... Hutson, John M.; Warne, Garry L.; Grover, Sonia R. (2012-02-02). Disorders of Sex Development: An Integrated Approach to ...
Dillema was probably a 46XX/46XY woman. This is also known as ovotesticular disorder of sex development (DSD) or true ... The forensic report speculated that Dillema developed from a zygote with an XXY genotype that promptly divided into a half XX, ... Dillema had refused to go to a mandatory sex test for the European championships in Brussels in August 1950. Dillema was the ... When she refused a sex verification test, she was banned from competition by the International Association of Athletics ...
Bashamboo A, McElreavey K (2015). "Human sex-determination and disorders of sex-development (DSD)". Seminars in Cell & ... Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (XX or XY), which directs ... XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model". Biology of Sex Differences. 9 (8): 8. doi:10.1186/ ... Human Sex Development and Its Disorders". Molecular Mechanisms of Cell Differentiation in Gonad Development. Results and ...
46XX/47XXY or 45X/XY mosaic). Clinically, medicine currently describes intersex people as having disorders of sex development, ... Intersex biology may include, for example, ambiguous-looking external genitalia, karyotypes that include mixed XX and XY ... Grumbach MM, Conte FA (1998). "Disorders of sex differentiation". In Williams RH, Wilson JD (eds.). Williams Textbook of ... In some cases, intersex traits are caused by unusual levels of sex hormones, which may be the result of an atypical set of sex ...
Kremen J, Chan YM, Swartz JM (January 2017). "Recent findings on the genetics of disorders of sex development". Curr Opin Urol ... 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 ... XY disorders of sex development". J Pediatr Urol. 9 (3): 368-379. doi:10.1016/j.jpurol.2012.12.002. PMID 23276787. "Swyer ... "Disorders of Sex Development". Best Practice & Research. Clinical Obstetrics & Gynaecology. 48: 90-102. doi:10.1016/j.bpobgyn. ...
XX males), are discriminatory against women with disorders of sexual development, and have had shattering consequences for ... that athletes born with a disorder of sex development and raised as females be allowed to compete as women remains appropriate ... Sex verification can be substantially more complicated than checking whether a person's sex chromosome pair is XX vs. XY, or ... The topic of sex verification is related to the more recent question of how to treat transgender people in sports. Sex ...
Cytochrome b5 deficiency Inborn errors of steroid metabolism Disorders of sexual development Intersexuality, ... in both sexes, as a reduced or absent puberty/lack of development of secondary sexual characteristics, resulting in a somewhat ... XY Disorders of Sexual Development". Pediatric Endocrinology. Retrieved 25 May 2012. Marschall Stevens Runge; Cam Patterson (20 ... Autosomal recessive disorders, Endocrine gonad disorders, Rare diseases, Intersex variations). ...
Disorders of sex development Intersexuality, pseudohermaphroditism, and ambiguous genitalia Hypogonadism and hypogonadotropic ... Wu SM, Leschek EW, Rennert OM, Chan WY (March 2000). "Luteinizing hormone receptor mutations in disorders of sexual development ... "Disorders of Sexual Development". In Gambello, Michael J. & Sutton, V. Reid (eds.). Genetics Diagnosis, Inborn Errors of ... Autosomal recessive disorders, Endocrine gonad disorders, Gonadotropin-releasing hormone and gonadotropins, Rare diseases, ...
... syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development ... Simpson, J.L. (2014). "Disorders of the Gonads, Genital Tract, and Genitalia". Reference Module in Biomedical Sciences: ... In contrast XX gonadal dysgenesis has a normal female chromosome situation.[citation needed] Another type of XX gonadal ... Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex ...
Implications for normal and abnormal human sex development". Developmental Dynamics. 242 (4): 320-9. doi:10.1002/dvdy.23892. ... XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features". ... implications for normal and abnormal human sex development". Developmental Dynamics. 242 (4): 320-9. doi:10.1002/dvdy.23892. ... Miller WL, Auchus RJ (April 2019). "The "backdoor pathway" of androgen synthesis in human male sexual development". PLOS ...
XX developmental testicular disorder". The New England Journal of Medicine. 364 (1): 91-93. doi:10.1056/NEJMc1010311. PMID ... Traut W, Sahara K, Marec F (2007). "Sex chromosomes and sex determination in Lepidoptera". Sexual Development. 1 (6): 332-346. ... The XX/XY sex-determination system is the most familiar, as it is found in humans. The XX/XY system is found in most other ... In this system, females have two of the same kind of sex chromosome (XX), while males have two distinct sex chromosomes (XY). ...
All human individuals - whether they have an XX, an XY, or an atypical sex chromosome combination - begin development from the ... 2012). "Gender dysphoria associated with disorders of sex development". Nat. Rev. Urol. 9 (11): 620-627. doi:10.1038/nrurol. ... Sex chromosomes and hormones, as well as sex-specific lifestyles, metabolism, immune system function, and sensitivity to ... In terms of biology, the female sex organs are involved in the reproductive system, whereas the secondary sex characteristics ...
XX male syndrome is a rare disorder, where the SRY region of the Y chromosome has recombined to be located on one of the X ... Bender B, Puck M, Salbenblatt J, Robinson A (1986). Smith S (ed.). Cognitive development of children with sex chromosome ... It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique ... XX). Sex linkage was first discovered in insects, e.g., T. H. Morgan's 1910 discovery of the pattern of inheritance of the ...
Youth who reported having sex with both males and females are at the greatest risk for disordered eating, unhealthy weight ... "Timeline of same-sex procreation scientific developments". samesexprocreation.com. "TEN THINGS LESBIANS SHOULD DISCUSS WITH ... 5% had a current or past eating disorder diagnosis. 19% believed that they had had an eating disorder or currently had one, but ... Personality disorders are common in transgender people. Gender identity disorder is currently classed as a psychiatric ...
Canada: Wadworth Publishing Company, 1999 Warne, Garry L.; Raza, Jamal (September 2008). "Disorders of sex development (DSDs), ... Neither Man Nor Woman: The hijras of India, p. xx. ... On the management of differences of sex development. Ethical ... 1996). "Hijras: An Alternative Sex and Gender Role in India". Third Sex, Third Gender: Beyond Sexual Dimorphism in Culture and ... Conversely, if a khuntha or female developed male secondary sex characteristics, performed penetrative sex with a woman, or had ...
Fraser syndrome is a disorder that affects the development of the child prior to birth. Infants born with Fraser syndrome often ... Those born with this disorder are considered to be genetic female and have a 46XX chromosomes. Kidney anomalies often accompany ... As the WNT4 gene is essential for developing a protein that is essential for female sex development, the Müllerian duct is ... These disorders are: Rokitansky-Mayer-Küster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be ...
1996). The psychosexual development of urban lesbian, gay, and bisexual youths. Journal of Sex Research. Vol. 33(2) 113-126. ... He was also Adviser to the Sexual Disorder Text Revision Work Group for DSM-IV-TR. He treats gender identity disorder in ... XX congenital adrenal hyperplasia. Meyer-Bahlburg published with John Money and others on the topic of psychoneuroendocrinology ... while sex-dimorphic behavior and temperamental sex differences appear to be modified by prenatal sex hormones. Meyer-Bahlburg ...
... and Sex Differences". Child Development. 81 (2): 480-486. doi:10.1111/j.1467-8624.2009.01411.x. PMID 20438454. Patel, Vikram; ... All twenty of the women interviewed fit into a pattern of symptoms associated with trauma-based mental health disorders. Six of ... Classification as a disorder Gender in individual mental disorders Sex differences in autism Sex differences in schizophrenia ... Depression in women is more likely to be comorbid with anxiety disorders, substance abuse disorders, and eating disorders. Men ...
XY disorders of sex development. E6201 is an enzyme inhibitor of MAP3K1 that shows cross-specificity with MAP2K1. MAP3K1 has ... XY disorders of sex development and implicate a common signal transduction pathway in human testis determination". American ... Genetics has revealed that MAP3K1 is important in: embryonic development, tumorigenesis, cell growth, cell migration, cytokine ... Development. 12 (21): 3369-3381. doi:10.1101/gad.12.21.3369. PMC 317229. PMID 9808624. Yujiri T, Nawata R, Takahashi T, Sato Y ...
Another reaction to a very severe stressor is called post traumatic stress disorder. People who have been subject to a ... Sex Differences in Episodic Memory. Current Directions in Psychological Science, 17 (1), 52-56. Canadian Mental Health ... Kail, R., Spear, N.E. Comparative Perspectives on the Development of Memory. Hillsdale, New Jersey: Lawrence Erlbaum Associates ... Risberg, J. & Grafman, J. (Ed.). (2006). The frontal lobes: Development, function and pathology. New York, NY: Cambridge ...
Ono M, Harley VR (February 2013). "Disorders of sex development: new genes, new concepts". Nature Reviews. Endocrinology. 9 (2 ... Pearce JJ, Singh PB, Gaunt SJ (April 1992). "The mouse has a Polycomb-like chromobox gene". Development. 114 (4): 921-9. doi: ... "Male-to-female sex reversal in M33 mutant mice". Nature. 393 (6686): 688-92. Bibcode:1998Natur.393..688K. doi:10.1038/31482. ... Development. 124 (3): 721-9. doi:10.1242/dev.124.3.721. PMID 9043087. Vidal M (2009-01-01). "Role of polycomb proteins Ring1A ...
"Disorders of Sex Development Loci☆". Disorders of Sex Development Loci. Elsevier. doi:10.1016/B978-0-12-809633-8.06552-3. ISBN ... The effects of excessive androgens differ in fetuses with XX chromosome (female) and XY chromosomes (male). In XX chromosome ... bipolar disorders, eating disorders, personality disorders, schizophrenia disorders, trauma and stress-related disorders, etc. ... Abnormal genital development includes disorders of fetal origin, disorders in androgen synthesis or action, disorders in anti- ...
Journal of Speech and Hearing Disorders, vol. 54, 167-173. Tallal, P., Ross, R. and Curtiss, S. 1989. Unexpected sex-ratios in ... The development of human cerebral lateralization. In D. Frank Benson and E. Zaidel (Eds.) The Dual Brain. New York, NY: The ... Genie's linguistic development was seen as an opportunity to research critical periods. Prior to the research done on Genie, it ... The development of language in Genie: A case of language acquisition beyond the "Critical Period". Brain and Language, vol. 1, ...
"Tumor Risk in Disorders of Sex Development". Sexual Development. 4 (4-5): 259-269. doi:10.1159/000314536. ISSN 1661-5433. PMID ... Hewitt, Jacqueline K.; Warne, Garry L. (February 2009). "Management of disorders of sex development". Pediatric Health. 3 (1): ... XY disorder of sex development (46,XY DSD) that presents in males with variable effects on genitalia which can be complete or ... XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency". The Journal of Steroid ...
XX testicular disorder of sex development". Genetics Home Reference. Archived from the original on 17 May 2019. Retrieved 24 ... Beh, Hazel; Diamond, Milton (July 27, 2006). "Variations of Sex Development Instead of Disorders of Sex Development [sic]". ADC ... "Ovotesticular Disorder of Sex Development". NORD (National Organization for Rare Disorders). Archived from the original on 29 ... "Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology". The Journal of Sex Research. 58 ...
Inborn error of metabolism Disorders of sex development Congenital adrenal hyperplasia Adrenal insufficiency Hypogonadism ( ... XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype". The Journal of Clinical Endocrinology & Metabolism. 105 ( ... Adrenal gland disorders, Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Genetic diseases and ... prevents synthesis of sex steroids by the gonads in both sexes Follicle-stimulating (FSH) hormone insensitivity: prevents ...
XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern ... XX Testicular Disorders/Differences of Sex Development. 2003 Oct 30 [updated 2022 May 26]. In: Adam MP, Mirzaa GM, Pagon RA, ... XX disorder of sex development. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. ... Recent findings on the genetics of disorders of sex development. Curr Opin Urol. 2017 Jan;27(1):1-6. doi: 10.1097/MOU. ...
Disorders of sexual development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions ... XX disorder of sex development (DSD). Note masculinized appearance of genitalia, with enlarged phallus and scrotal appearance ... encoded search term (Differences (Disorders) of Sex Development (DSDs)) and Differences (Disorders) of Sex Development (DSDs) ... Phenotypic sex determination begins with genetic sex and follows a logical cascade: Chromosomal sex determines gonadal sex, ...
XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes ... XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete ... XX testicular disorder of sex development. About 20 percent of those with 46 XX testicular disorder of sex development do not ... XX testicular disorder of sex development are more likely to have ambiguous genitalia than are people with the SRY-positive ...
XX true hermaphrodites and one 45,X mixed gonadal … ... Disorders of Sex Development / genetics* * Female * Gonadal ... XX true hermaphrodite is positive for the Y pseudoautosomal boundary Hum Genet. 1990 Oct;85(6):666-8. doi: 10.1007/BF00193595. ... XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the ... XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. This case provides further evidence for ...
XX testicular disorder of sex development Also known as: 46,XX testicular DSD 46,XX gonadal dysgenesis XX male syndrome 46, XX ... gonadal sex reversal XX sex reversal GARD Summary 47 XXX syndrome Also known as: Trisomy X Triple X syndrome Triple-X female ... NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or ... National Organization for Rare Disorders (NORD). 1900 Crown Colony Drive. Suite 310. Quincy, MA 02169. Phone: 617-249-7300 ...
XX ovotesticular difference of sex development. Disease definition A rare disorder of sex development (DSD) characterized by ... Rarely, others include palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (caused by ... The need for and timing of surgical treatment is complex, depending on sex assignment and gonadal configuration. Management ... The disorder may account for less than 3-10% of all DSD. ... Some present later with abnormal pubertal development. Signs ...
XX testicular disorder of sex development. Around 1 in 20,000 people are thought to have this condition.2 ... Krone et al., "Age-specific changes in sex steroid biosynthesis and sex development.", Best Pract Res Clin Endocrinol Metab. ( ... So, a sex test wont necessarily give a simple answer. Plus since sex and gender are different, the results of a sex test might ... When you are XX and have a lot of testosterone during development, it can cause you to have both male and female ...
Other causes of congenital enlargement of the clit include a wide array of disorders of sex development (DSDs). ... XX and 46, XY.. Clitoromegaly may also occur later in life for a number of reasons, such as hormonal imbalances caused by ... While it can be caused by medical conditions or disorders, hormonal shifts, or medication, there is generally nothing harmful ... Join our weekly newsletter and get the latest thought-provoking bold research and fearless conversations about sex - plus ...
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS One. 2011;6(3):e17751. ... XX individuals. J Clin Endocrinol Metab. 2012;97(7):E1294-E1306.. View this article via: PubMed Google Scholar ... Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev. 2008;2(4-5):200-209.. View this ... Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46, ...
XX testicular Disorders of Sex Development. Research output: Contribution to journal/Conference contribution in journal/ ... Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: a population-based registry ...
XY disorders of sex development. J Pediatr Urol. 2013 Jun. 9 (3):368-79. [QxMD MEDLINE Link]. ... LH and FSH bind to receptors in the testis and ovary and regulate gonadal function by promoting sex steroid production and ...
XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination ... XX TD. DSD, disorders of sex development; ref, reference number; TD, testicular DSD; OTD, ovotesticular DSD; fam, familial; sib ... These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY. gene. ... XX TD. fam. a mutation at a sex-determining locus other than SRY & SOX9 as the cause for the XX sex reversal trait in this ...
Disorders of sexual development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions ... given that two X chromosomes are believed to be necessary to normal ovarian development. Possibly, unidentified XX cell lines ... encoded search term (Disorders of Sex Development) and Disorders of Sex Development What to Read Next on Medscape ... Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, ...
XX ovotesticular disorder of sex development. Kikumi Ushijima, Yuya Ogawa, Miho Terao, Yumi Asakura, Koji Muroya, Mie Hayashi, ... XX ovotesticular disorder of sex development. Together they form a unique fingerprint. ... Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46, ...
XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling. In: PLOS genetics, 2014, vol. 10, n° ... HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of ... XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense ... XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling. ...
XX/46,XY (chimerism/mosaicism). Disorders of gonadal (testis) development. Complete or partial gonadal dysgenesis (e.g., SRY, ... Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. DHT, ... The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination ... TABLE 10-1 Classification of Disorders of Sex Development (DSDs) SEX CHROMOSOME DSD. 46,XY DSD (SEE TABLE 10-3). 46,XX DSD (SEE ...
XY disorders of sex development. ESR2 STUDY GROUP, jul. 2018, In: Genetics in medicine : official journal of the American ... 2021, In: Familial Cancer. 20, 4, blz. 327-336 10 blz.. Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review ... 2021, In: Brachytherapy. 20, 2, blz. 478-484 7 blz.. Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review ... College of Medical Genetics. 20, 7, blz. 717-727 11 blz.. Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review ...
XX Disorders of Sex Development 46 100% * Genetic Variation 83% * Genetic Enhancer Elements 73% ... 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 disorder of sex development (DSD) revealed the heterozygous de novo WT1 nonsense variant NM_024426.4 c.1468C>T p.(Gln490*). ... XX Disorder of Sex Development Caused by a WT1 Pathogenic Variant. WT1 is an important gene in gonadal differentiation process ... XX case presenting with external genital virilization, diaphragmatic hernia and wilms tumor. A screening on a Next Generation ... This gene is associated with under-virilization in 46,XY patient. Here we report a 46, ...
At our Disorders of Sexual Differentiation Program our team of specialists in pediatric endocrinology, genetics, social work, ... What are disorders of sexual differentiation? Disorders of sex differentiation, also known as disorders of sexual development ... "Sex" is a biological term that refers to the sex chromosomes of a person. An XY chromosome pair is typical for a male and an XX ... The disorders below are some of the most common disorders of sex differentiation that cause atypical genitalia. There are other ...
XX/46,XY (chimerism/mosaicism). Disorders of gonadal (testis) development. Complete or partial gonadal dysgenesis (e.g., SRY, ... Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. DHT, ... The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination ... TABLE 383-1 Classification of Disorders of Sex Development (DSDs) Sex Chromosome DSD. 46,XY DSD (see Table 383-3). 46,XX DSD ( ...
XX testicular disorder of sex development From NCATS Genetic and Rare Diseases Information Center ... XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature. Capron Céline, et al ... Content source: Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics, National Center on ... xx Testicular Disorder Of Sex Development Whats New Last Posted: Sep 27, 2022 * Evidence for high breakpoint variability in 46 ...
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 ... Invitae Disorders of Male Sex Development Panel. By Invitae in United States. WT1, AR, SRY, NR0B1, NR5A1, SRD5A2, DHH, MAP3K1 ... Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics ...
XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias; ...
XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias; ...
XX DSD. Diagnostic approach to DSD. Diagnosis begins with determining the type of disorder of sex development. Physical ... But, if at any stage of sex development an atypical development takes place it results in a disorder of sex development. Like: ... Causes of disorder of Sex development. Through the many stages of sex development, if all is typical the fetus develops into a ... Other terms in place of disorder of sex development are intersex (between the sexes) or hermaphrodite or ...
... reproductive development could halt, or attempt to proceed down the opposite sex pathway. Humans, like all other mammals, ... rarediseases.info.nih.gov/diseases/399/46xx-testicular-disorder-of-sex-development. ... XX testicular disorder of sex development, NIH National Center for Advancing Translational Sciences. Available at: https:// ... What are Differences/Disorders of Sex Development (or intersex conditions)?. If fetal tissues were to receive erroneous signals ...
Increasingly, this group of conditions is being called disorders of sex development (DSDs)." ref ... Between XX and XY: Intersexuality and the Myth of Two Sexes Hardcover - July 1, 2009, by Gerald N. Callahan PhD (Author) 3.4 ... However, there may be problems with sex hormone levels, overall sexual development, and altered numbers of sex chromosomes." ... Sex, Gender, and Sexuality: Its Complicated. Sex redefined: The idea of two sexes is simplistic. Biologists now think there is ...
  • 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)
  • Differential diagnoses include other DSD, including mixed gonadal dysgenesis and 46,XX testicular DSD. (orpha.net)
  • The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
  • Rarely, others include palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (caused by biallelic RSPO1 gene variants), SERKAL syndrome (recessive WNT4 variants). (orpha.net)
  • To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
  • These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY . (e-kjgm.org)
  • 46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.org)
  • Disruption of the key genes involved in the differentiation of the gonads can lead to fertility problems, and in some cases, it can cause the gonads to develop in the 'opposite' direction, resulting in a sex reversal. (bvsalud.org)
  • However, the paradigm of early gender assignment has been challenged by the results of clinical and basic science research, which show that gender identity development likely begins in utero and may not be the same as chromosomal or phenotypic sex. (medscape.com)
  • In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published proposed changes to the previously used nomenclature and definitions of disorders in which the development of chromosomal, gonadal, or phenotypic sex is atypical. (medscape.com)
  • The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
  • Less common are SRY-negative XX males, which can be caused by a mutation in an autosomal or X chromosomal gene. (wikipedia.org)
  • Multiple types of chromosomal DSDs can cause clitoromegaly in childhood and adolescence, including 46, XX and 46, XY. (womens-health.com)
  • Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)
  • The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination), and phenotypic sex (sex differentiation) ( Fig. 10-1 ) . (mhmedical.com)
  • Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. (mhmedical.com)
  • As a general rule, the chromosomal sex of an embryo, which gets determined at fertilization, leads to the activation and repression of specific genes. (bvsalud.org)
  • Birth defects may result from genetic or chromosomal disorders , exposure to certain medications or chemicals, or certain infections during pregnancy . (mdwiki.org)
  • 46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. (medlineplus.gov)
  • Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular difference of sex development. (medlineplus.gov)
  • In about 80 percent of individuals with 46,XX testicular difference of sex development, the condition results from an abnormal exchange of genetic material between chromosomes ( translocation ). (medlineplus.gov)
  • This form of the condition is called SRY -positive 46,XX testicular difference of sex development. (medlineplus.gov)
  • About 20 percent of people with 46,XX testicular difference of sex development do not have the SRY gene. (medlineplus.gov)
  • Individuals with SRY -negative 46,XX testicular difference of sex development are more likely to have ambiguous genitalia than are people with the SRY -positive form. (medlineplus.gov)
  • SRY -positive 46,XX testicular difference of sex development is almost never inherited. (medlineplus.gov)
  • This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular difference of sex development. (medlineplus.gov)
  • The inheritance pattern of SRY -negative 46,XX testicular difference of sex development is variable. (medlineplus.gov)
  • Differences (disorders) of sex development (DSDs), formerly termed intersex conditions, are seen in infants who are born with ambiguous or abnormal genitalia and may have indeterminate phenotypic sex. (medscape.com)
  • Other causes of congenital enlargement of the clit include a wide array of disorders of sex development (DSDs). (womens-health.com)
  • Disorders of sex development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions encountered by the clinician. (medscape.com)
  • These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY gene. (e-kjgm.org)
  • Variations at each of these stages can result in disorders (or differences) of sex development (DSDs) ( Table 10-1 ) . (mhmedical.com)
  • However, because our genetic template is still either male or female, these anomalies or Disorders/Differences of Sex Development (DSDs) can only impair that template. (can-sg.org)
  • Therefore, DSDs are said to be sex-specific (belonging to one or other sex). (can-sg.org)
  • Instead, DSDs should be used more specifically to denote those individuals for whom their sex may be difficult for a doctor to immediately observe, which only happens in approximately 0.02% of the population (Sax, 2002). (can-sg.org)
  • Females usually have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY). (medlineplus.gov)
  • The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. (medlineplus.gov)
  • a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome. (medlineplus.gov)
  • Normal XX females undergo X inactivation during which one copy of the X chromosome is silenced. (wikipedia.org)
  • The X chromosome with the SRY gene is preferentially chosen to be the active X chromosome 90% of the time, which explains complete male phenotype being observed often in SRY-positive XX males. (wikipedia.org)
  • citation needed] The SRY gene, normally found on the Y chromosome, plays an important role in sex determination by initiating testicular development. (wikipedia.org)
  • For the first part of the sex verification test, they will probably check for a Y chromosome. (thetech.org)
  • Testis-determining factor (TDF) is a 35-kilobase pair (kbp) sequence on the 11.3 subband of the Y chromosome, an area termed the sex-determining region of the Y chromosome (SRY). (medscape.com)
  • The existence of patients with 46,XX testicular DSD, who have testicular tissue in the absence of an obvious Y chromosome or SRY genetic material, clearly requires other genetic explanations. (medscape.com)
  • Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. (e-kjgm.org)
  • Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. (e-kjgm.org)
  • The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.org)
  • Sex differentiation related genes such as SOX9 , FGF9 , DAX1 , WT1 , RSPO1 , and SOX10 , which are located on either autosomes or the X chromosome, may have a role in gonad development and function. (e-kjgm.org)
  • 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)
  • Around the 6 th week of the unborn baby's development, a gene on the Y chromosome of a developing boy tells the fetal tissue that will form the sex organs to become the testes. (chkd.org)
  • Without the Y chromosome, the fetal tissue in a female baby that will form the sex organs becomes the ovaries, uterus, and fallopian tubes. (chkd.org)
  • See also {614327} for a tumor predisposition syndrome that may contribute to the development of malignant mesothelioma upon asbestos exposure and is caused by germline mutation in the BAP1 gene ( OMIM ) on chromosome 3p21. (mendelian.co)
  • The Y chromosome helps make a boy as it contains the genes for the development of male organs like the testes and penis. (targetwoman.com)
  • In the absence of the Y chromosome, the fetal tissue in a female fetus (XX) will form the female sex organs - the ovaries, uterus and the fallopian tubes. (targetwoman.com)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • An estimated 2,000 babies are born 'intersex' each year, referring to a set of over 60 different conditions that fall under the diagnosis of 'DSD' (Differences/Disorders of Sex Development). (targetwoman.com)
  • What are Differences/Disorders of Sex Development (or intersex conditions)? (can-sg.org)
  • An induced pluripotent stem cell line (iPSC) LCHi002-B was generated from a participant with differences (disorders) of sex development (DSD) and multiple genetic variants including a large deletion in NR5A1, and three single nucleotide changes in DYNC2H1, PDE4D, and ZFPM2. (bvsalud.org)
  • For example, important differences between sexes were evidenced in respect of palisadic tissue, epidermal stomatic number, secretory hair distribution etc. (researchgate.net)
  • Biology of Sex Differences , DOI: 10.1186/2042-6410-3-20. (cuny.edu)
  • The P301S tau model showed strong cortical increases of TSPO-PET from 2 to 8.5 months of age (female + 32%, male + 36%), without any significant sex × age interaction ( T = − 0.671, p = 0.504), and no sex differences in Iba-1, CD68, or AT8 immunohistochemistry. (biomedcentral.com)
  • Human clinical data indicate that men and women exhibit sex differences in the neuropathological and symptomatic progression of AD [ 10 ]. (biomedcentral.com)
  • There is growing evidence that sex differences in neuroinflammation pathways including microglia could play a crucial role in driving the sex differences observed in AD [ 13 ]. (biomedcentral.com)
  • Nonetheless, the few reports on sex differences in TSPO expression have mainly focused on astrocytes in culture. (biomedcentral.com)
  • The medical community has changed its approach to intersex cases-which doctors often categorize as "Differences of Sex Development" or "DSD"-by establishing "DSD teams. (hrw.org)
  • 3 Although Kraepelin's clinical description of bipolar disorder (BD) remains the cornerstone of today's clinical description, more modern conceptions of bipolar disorder have differentiated manic depressive illness from recurrent depression, 4 partly based on differences in family history and the relative specificity of lithium carbonate and mood stabilizing anticonvulsants as anti-manic and prophylactic agents in bipolar disorder. (hensparty.org)
  • The type of gonad present determines the differentiation/regression of the internal ducts (ie, müllerian and wolffian ducts) and ultimately determines the phenotypic sex. (medscape.com)
  • People normally have 46 chromosomes in each cell. (medlineplus.gov)
  • You have 46 chromosomes in each cell of your body. (chkd.org)
  • Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
  • XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in which an individual with a 46,XX karyotype (otherwise associated with females) has phenotypically male characteristics that can vary among cases. (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)
  • Two X chromosomes is medically written as Karyotype 46, XX. (targetwoman.com)
  • An XY is referred to as Karyotype 46, XY. (targetwoman.com)
  • Thenceforth, our bodies develop down one of the two reproductive pathways - a female pathway, characterised typically by 46 XX karyotype, which influences sexual differentiation to support production of eggs, and a male pathway, characterised typically by 46 XY karyotype, which influences sexual differentiation to support production of sperm. (can-sg.org)
  • This is a type of XX difference of sexual development (XX DSD) due to the presence of the SRY gene in an animal with an XX karyotype. (omia.org)
  • When a child's genitalia appears atypical at birth, the CHOC Center Urology Center Disorders of Sexual Differentiation Program team immediately becomes part of the child's care. (choc.org)
  • Atypical genitalia may make determining the child's sex more difficult. (choc.org)
  • But, if at any stage of sex development an atypical development takes place it results in a 'disorder of sex development. (targetwoman.com)
  • Historically, when children with atypical sex characteristics were born in the United States, the people around them-parents and doctors-made their best guess and assigned the child a sex. (hrw.org)
  • At the Disorders of Sexual Differentiation Program, our team of specialists in pediatric endocrinology , genetics , social work , urology and psychology work with families to create the most ideal outcomes for their children. (choc.org)
  • Our Disorders of Sexual Differentiation Program team has been on the forefront of research in this area. (choc.org)
  • What are disorders of sexual differentiation? (choc.org)
  • Disorders of sex differentiation, also known as disorders of sexual development or DSD, are conditions in which the sexual development that occurs during fetal growth does not happen as it should. (choc.org)
  • may lead to better models for gonadal development in humans, involving DMRT1 in the differentiation of testes. (bvsalud.org)
  • Development of external genitalia ranges from apparent female to male genitalia with hypospadias or isolated bilaterally undescended ovotestes (gonads containing ovarian and testicular elements). (orpha.net)
  • Consistent with the patient phenotype, HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of function in mice recapitulates most of the testicular, skeletal, neuronal and growth defects observed in humans. (unige.ch)
  • During fetal development the tissue that eventually becomes the gonads (ovaries or testes) receives signals based on the child's genetics. (choc.org)
  • After decades of controversy in the medical community over the procedures, the lack of centralized care standards allows doctors to continue operating on children's gonads, internal sex organs, and genitals when they are too young to participate in the decision, even though such surgery is dangerous and could be safely deferred. (hrw.org)
  • Doctors began recommending surgical solutions to the supposed "problem" of intersex traits-internal sex organs, genitalia, or gonads that do not match typical definitions of male and female. (hrw.org)
  • The appearance of XX males can fall into one of three categories: 1) males that have normal internal and external genitalia, 2) males with external ambiguities, and 3) males that have both internal and external genital ambiguities. (wikipedia.org)
  • Those with this condition have male chromosomes, underdeveloped sex organs, internal female reproductive organs, and female external genitalia. (chkd.org)
  • A team of specialists conducts both a medical history and a physical examination of the child's external genitalia to make a diagnosis of the underlying cause of the disorder. (choc.org)
  • Yet, the example of these two conditions only affect male genitalia, meaning there is no ambiguity over the boy's sex. (can-sg.org)
  • Serum AMH measurements are useful, together with testosterone determination, in the diagnosis of patients with ambiguous genitalia: both are low in patients with gonadal dysgenesis, including ovotesticular disorders of sex development, testosterone is low but AMH is in the normal male range or higher in patients with disorders of androgen synthesis, and both hormones are normal or high in patients with androgen insensitivity. (biomedcentral.com)
  • But they have only one gender's internal sex organs. (chkd.org)
  • Male pseudohermaphrodite means the child has male internal sex organs. (chkd.org)
  • Female pseudohermaphrodite means the child has female internal sex organs. (chkd.org)
  • These processes for sex determination do not occur in females in the absence of SRY . (e-kjgm.org)
  • 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)
  • Because the species with male individuals and female individuals have evolved repeatedly from hermaphroditic progenitors, the mechanisms for the control of sex determination in flowering plants are extremely diverse. (researchgate.net)
  • The sex is principally determined by genotype in all species, but the mechanisms range from a single controlling locus to sex chromosomes bearing several linked loci required for sex determination. (researchgate.net)
  • It is thought that X inactivation in XX males may account for the genital ambiguities and incomplete masculinization seen in SRY-positive XX males. (wikipedia.org)
  • Here we report a 46,XX case presenting with external genital virilization, diaphragmatic hernia and wilms tumor. (acmcasereport.org)
  • The CHOC Urology Center is highly recognized in the realm of treating children with these disorders, both emotionally and physically, with extensive expertise in genital reconstructive surgery. (choc.org)
  • In pseudohermaphroditism the genital and sex determinations are discordant, for instance an apparently female individual may have testes, a male pseudohermaphrodite. (targetwoman.com)
  • The degree to which individuals with XX male syndrome develop the male phenotype is variable, even among SRY-positive individuals. (wikipedia.org)
  • Some XX males, however, do not have the SRY gene (SRY-negative) and the male phenotype may be caused by another gene on one of the autosomes. (wikipedia.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)
  • In this condition of sexual ambiguity, the individual pseudohermaphrodite possesses gonadal tissue of one sex but exhibits external phenotype of the opposite sex. (targetwoman.com)
  • We then tested whether the levels of three important cytokines (TNF-α, IFN-γ and IL-1β) in the serum, cortex and hypothalamus of these animals could be explained by the gregariousness phenotype and/or sex of the mice. (frontiersin.org)
  • All hair steroids tended to be elevated in animals of high gregariousness phenotype, independent of sex. (frontiersin.org)
  • Most XX males have small testes, and have an increase in maldescended testicles compared to XY males. (wikipedia.org)
  • It may result from a disorder of the testes (primary hypogonadism). (msdmanuals.com)
  • The syndrome is usually identified at puberty, when inadequate sexual development is noted (typically very small, firm testes), or later, when infertility is investigated. (msdmanuals.com)
  • In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. (unige.ch)
  • Myotonic Dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
  • Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
  • Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
  • By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
  • Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
  • Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
  • By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)
  • Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
  • Certain hormones also can affect the development of the sex organs. (chkd.org)
  • This enzyme is needed to help the male sex organs complete their development. (chkd.org)
  • Girl babies with this condition have male sex organs. (chkd.org)
  • Besides the SRY gene, certain hormones can influence the development of the sexual organs. (choc.org)
  • The external sex organs in some of these people look intermediate between the typical vagina or penis . (targetwoman.com)
  • But there are instances when the midwife cannot determine the sex of the baby as the sex organs do not conform to defined norms of a male or a female. (targetwoman.com)
  • The baby is born with sex organs that aren't clearly male or female. (targetwoman.com)
  • Congenital anomalies can also affect the development of the organs of the reproductive system. (can-sg.org)
  • These organs, which are different in males and females, originate from the same cells during the development of the embryo. (bvsalud.org)
  • However, the paradigm of early gender assignment has been challenged by the results of clinical and basic science research, which show that gender identity development likely begins in utero. (medscape.com)
  • Sex development begins in utero but continues into young adulthood with the achievement of sexual maturity and reproductive capability. (mhmedical.com)
  • 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)
  • Second, we highlighted another function of DMRT1 in the germline since XX and XY DMRT1-/- ovaries did not undergo meiosis and folliculogenesis. (bvsalud.org)
  • LH and FSH bind to receptors in the testis and ovary and regulate gonadal function by promoting sex steroid production and gametogenesis. (medscape.com)
  • The sex hormone binding globulin suppression test using anabolic steroid is used in confirming the diagnosis. (targetwoman.com)
  • The nuclear receptor subfamily 5, Group A, Member 1 (NR5A1) gene encodes steroidogenic factor 1 (SF1), which is necessary for development of steroid hormone-producing tissues including the gonad and adrenal gland. (bvsalud.org)
  • 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)
  • In 90 percent of these individuals, the syndrome is caused by the Y chromosome's SRY gene, which triggers male reproductive development, being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of the X and Y chromosomes during meiosis in the father. (wikipedia.org)
  • If fetal tissues were to receive erroneous signals at an early stage, or fail to receive appropriate ones, reproductive development could halt, or attempt to proceed down the opposite sex pathway. (can-sg.org)
  • At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). (medlineplus.gov)
  • Male humans make a lot more testosterone because it is important for early male development. (thetech.org)
  • A malformation is associated with a disorder of tissue development. (mdwiki.org)
  • [ 3 , 4 ] The rationale behind these proposals was to change the nomenclature to reflect advances in the understanding of the pathophysiology of these disorders while being sensitive to the needs and concerns of patients affected by them. (medscape.com)
  • The cause of 46,XX ovotesticular DSD is not elucidated for the majority of cases. (orpha.net)
  • As defined by the World Health Organization, ovarian insufficiency can be caused by a primary disorder in the ovary or it can occur as a result of secondary causes. (medscape.com)
  • Females have two X chromosomes (XX) in each cell. (targetwoman.com)
  • XX DMRT1-/- adult females were sterile, showing that DMRT1 is also crucial for female fertility. (bvsalud.org)
  • Cases included illustrate different causes of abnormal puberty as well as management strategies, including congenital anomalies, endocrine disorders, issues of constitutional delay, obesity, eating disorders, ovarian cancer and the effect of pharmacology, among others. (nshealth.ca)
  • Indeed, when DMRT1 is disrupted in male humans it leads to disorders of sex development, while disrupting this gene in male mice causes infertility. (bvsalud.org)
  • Recent work has focused on the nature of the parallel pathways in humans that are responsible for encoding and transmitting visual information, and on the development of these pathways from infancy through adulthood. (cuny.edu)
  • Psychophysical experiments utilize hue scaling and chromatic adaptation to isolate chromatic and luminance pathways, while physiological studies use the visual evoked potential to study the development of these pathways in humans. (cuny.edu)
  • In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
  • This article is about congenital disorders in humans. (mdwiki.org)
  • Sex and gender aren't exactly the same thing. (thetech.org)
  • Someone's gender identity might not match the sex they were assigned at birth. (thetech.org)
  • Most of these "gender tests" you mention are actually looking at biological sex, not gender. (thetech.org)
  • Gender identity is determined not only by the phenotypic appearance of the individual but also by the brain's prenatal and postnatal development as influenced by the environment. (medscape.com)
  • because they help determine whether a person will develop male-typical or female-typical sex characteristics. (medlineplus.gov)
  • The cause of the condition in these individuals is often unknown, although changes affecting other genes involved in the development of sex characteristics have been identified in a small number of people with the condition. (medlineplus.gov)
  • According to research at the University of Oklahoma health science centers, despite XX males exhibiting feminine characteristics, their behaviours are usually representative of masculinity in their culture. (wikipedia.org)
  • Sex" refers to the biological or physical characteristics of a person. (thetech.org)
  • Clinical characteristics that predict risk of development and progression of OSA include a large neck circumference and male sex. (cdc.gov)
  • How do disorders of sexual development happen? (chkd.org)
  • Although the hemp is a dioecious species, with sexual dimorphism occurring in a late stage of plant development, as a consequence of intensive improvement, many varieties with different sexual expressions were produced, and a large scale of sexualization types is observed in culture. (researchgate.net)
  • Objetivos: Avaliar os desfechos psicossexuais - IG, PG e OS - e aspectos da vida sexual em uma coorte de indivíduos com DDS 46,XY na idade adulta com diagnostico etiológico caracterizado do ponto de vista clínico e molecular e investigar a influência da exposição androgênica pré-natal e do grau de virilização da genitália externa nesses desfechos e na prevalência de disforia de gênero (DG). (usp.br)
  • The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. (unige.ch)
  • Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. (unige.ch)
  • The masculinization of XX males is variable. (wikipedia.org)
  • Typically, the appearance of XX males differs from that of an XY male in that they are smaller in height and weight. (wikipedia.org)
  • Masculinization of SRY-negative XX males is dependent upon which genes have mutations and at what point in development these mutations occur. (wikipedia.org)
  • In about 80 percent of XX males, the SRY gene is present on one of the X chromosomes. (wikipedia.org)
  • This review will address the usefulness of AMH as a biomarker of testicular function in prepubertal and adolescent males, based on the knowledge of the endocrine regulation of testicular AMH secretion during pre- and post-natal development. (biomedcentral.com)
  • Local penile factors and systemic diseases, including diabetes, cardiac disease, and neurologic disorders, can cause ED. Diagnosis is via physical exam and history. (lecturio.com)
  • The alternative name for XX male syndrome refers to Finnish scientist Albert de la Chapelle, who studied the condition and its etiology. (wikipedia.org)
  • Finally, elevation of serum AMH above normal male prepubertal levels may be indicative of rare cases of sex-cord stromal tumors or Sertoli cell-limited disturbance in the McCune Albright syndrome. (biomedcentral.com)
  • Hypertensive disorders of pregnancy include chronic hypertension, gestational hypertension, preeclampsia/eclampsia, and hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. (lecturio.com)
  • Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. (rarediseases.org)
  • 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)
  • This clinical state is characterized by elevated basal serum FSH levels in association with disordered menstrual cycles as demonstrated by oligomenorrhea, polymenorrhea, or metrorrhagia. (medscape.com)
  • In vivo assessment of neuroinflammation by 18-kDa translocator protein positron-emission-tomography (TSPO-PET) ligands receives growing interest in preclinical and clinical research of neurodegenerative disorders. (biomedcentral.com)
  • The clinical manifestations of bipolar disorder can be markedly varied between and within individuals across their lifespan. (hensparty.org)
  • This review provides an overview of the clinical features, diagnostic subtypes, and major treatment modalities available to treat people with bipolar disorder, highlighting recent advances and ongoing therapeutic challenges. (hensparty.org)
  • While the boundaries of bipolar disorder remain a matter of controversy, 5 this review will focus on modern clinical conceptions of bipolar disorder, highlighting what is known about its causes, prognosis, and treatments, while also exploring novel areas of inquiry. (hensparty.org)
  • Lots of different genes are all part of determining a baby's biological sex. (thetech.org)
  • While it can be caused by medical conditions or disorders, hormonal shifts, or medication, there is generally nothing harmful or dangerous about clitoromegaly itself and it is most often congenital (present at birth). (womens-health.com)
  • While clitoromegaly is not usually harmful, some of the conditions that cause it can be, such as congenital adrenal hyperplasia , a genetic disorder that affects the adrenal glands. (womens-health.com)
  • The most common cause of congenital clitoromegaly is congenital adrenal hyperplasia (CAH), a disorder of the adrenal glands that can be serious and affects 1 in 10,000 to 16,000 people . (womens-health.com)
  • This hypothalamic-pituitary-gonadal axis evolves throughout development, from fetal life through adulthood. (biomedcentral.com)
  • This gene is associated with under-virilization in 46,XY patient. (acmcasereport.org)