Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
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.
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.
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.
Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Clinical treatments used to change the physiological sexual characteristics of an individual.
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.
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.
Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).
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.
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.
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.
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).
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.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
The rights of the individual to cultural, social, economic, and educational opportunities as provided by society, e.g., right to work, right to education, and right to social security.
Educational institutions for individuals specializing in the field of nursing.

Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients. (1/35)

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Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development. (2/35)

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A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development. (3/35)

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Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. (4/35)

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Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. (5/35)

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Recognition of 5alpha-reductase-2 deficiency in an adult female 46XY DSD clinic. (6/35)

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Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. (7/35)

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Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. (8/35)

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'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.

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.

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.

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.

'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.

Hypospadias is a congenital condition in males where the urethral opening (meatus), which is the end of the urethra through which urine exits, is not located at the tip of the penis but instead appears on the underside of the penis. The severity of hypospadias can vary, with some cases having the meatus located closer to the tip and others further down on the shaft or even at the scrotum or perineum (the area between the scrotum and the anus). This condition affects about 1 in every 200-250 male newborns. The exact cause of hypospadias is not fully understood, but it's believed to be a combination of genetic and environmental factors. Surgical correction is usually recommended during infancy or early childhood to prevent complications such as difficulty urinating while standing, problems with sexual function, and psychological issues related to body image.

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.

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.

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.

'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.

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.

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.

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.

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.

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.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

I'm sorry for any confusion, but "Human Rights" is a social, political, and legal concept, rather than a medical one. Human rights are basic rights and freedoms to which all individuals are entitled, regardless of nationality, sex, ethnicity, religion, language, or any other status. They include civil and political rights, such as the right to life, liberty, and freedom of expression; as well as social, cultural and economic rights, like the right to participate in culture, the right to food, and the right to work and receive an education.

However, in the context of healthcare, human rights are crucial. The Universal Declaration of Human Rights recognizes the right to medical care and the right to enjoy the highest attainable standard of physical and mental health. Healthcare providers have a responsibility to respect and protect their patients' human rights, ensuring that they receive care without discrimination, that their privacy is protected, and that they are involved in decisions regarding their healthcare.

Violations of human rights can significantly impact an individual's health and well-being, making the promotion and protection of human rights a critical public health issue.

I'm sorry for any confusion, but "Schools, Nursing" is not a recognized medical term or concept. It seems like there might be some misunderstanding or missing context in your request.

Nursing, as a profession, involves the provision of care to individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. Nursing education, therefore, typically takes place in schools of nursing, which are institutions dedicated to providing theoretical and practical education for future nurses.

If you're referring to a specific medical condition, treatment, or concept that you think might be related to "Schools, Nursing," could you please provide more context or clarify your question? I'd be happy to help with more information.

XY; sex chromosome; XX, sex reversal; ovotesticular disorder; and XY, sex reversal. DSDs are medical conditions encompassing ... 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 ...
XY disorders of sex development". J Pediatr Urol. 9 (3): 368-379. doi:10.1016/j.jpurol.2012.12.002. PMID 23276787. "Swyer ... Kremen J, Chan YM, Swartz JM (January 2017). "Recent findings on the genetics of disorders of sex development". Curr Opin Urol ... XY Karyotype in a Family with Multiple Disorders of Sexual Development". The Journal of Clinical Endocrinology & Metabolism. 93 ... "Disorders of Sex Development". Best Practice & Research. Clinical Obstetrics & Gynaecology. 48: 90-102. doi:10.1016/j.bpobgyn. ...
Dillema was probably a 46XX/46XY woman. This is also known as ovotesticular disorder of sex development (DSD) or true ... XY (male) chromosomes, in approximately a one-to-one ratio, in her skin. The forensic report speculated that Dillema developed ... 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 ...
"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 ...
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 ... XY disorder of sex development due to 17 beta hydroxysteroid dehydrogenase 3 deficiency". www.orpha.net. Retrieved 2017-03-12. ... XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β ...
XY disorder of sex development (46,XY DSD) called 5α-reductase 2 deficiency (5αR2D). The mutations are inherited in an ... Two of three isozymes of 5αR can catalyze the transformation of T to DHT, but it is only 5αR2D that causes 46XY, DSD. 5αR2 is ... XY disorders of sex development (DSD): 46,XY disorders of sex development". Clinical Endocrinology. 70 (2): 173-187. doi: ... "Changes over time in sex assignment for disorders of sex development". Pediatrics. 134 (3): e710-5. doi:10.1542/peds.2014-1088 ...
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 ...
XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model". Biology of Sex Differences. 9 (8): 8. doi:10.1186/ ... Bashamboo A, McElreavey K (2015). "Human sex-determination and disorders of sex-development (DSD)". Seminars in Cell & ... XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing ... Human Sex Development and Its Disorders". Molecular Mechanisms of Cell Differentiation in Gonad Development. Results and ...
XY disorders of sex development and implicate a common signal transduction pathway in human testis determination". American ... Chronic Myeloid Leukemia (CML), a stem cell disorder that prevents myeloid cells from functioning correctly, has been linked to ... RhoA is required for processes involving cell development, some of which include outgrowth, dorsal closure, bone formation, and ... cellular development and transcriptional control. RhoA is prevalent in regulating cell shape, polarity and locomotion via actin ...
XY disorder of sex development". J. Clin. Endocrinol. Metab. 95 (4): 1876-88. doi:10.1210/jc.2009-2146. PMID 20150575. Lumbroso ... but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected ... Hughes IA, Houk C, Ahmed SF, Lee PA (July 2006). "Consensus statement on management of intersex disorders". Arch. Dis. Child. ... The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics ...
XY disorder of sex development". J. Clin. Endocrinol. Metab. 95 (4): 1876-88. doi:10.1210/jc.2009-2146. PMID 20150575. Lumbroso ... Feder EK, Karkazis K (2008). "What's in a name? The controversy over "disorders of sex development"". Hastings Cent Rep. 38 (5 ... Hughes IA (February 2008). "Disorders of sex development: a new definition and classification". Best Pract. Res. Clin. ... Until around the seventh week of development, the embryo has indifferent sex accessory ducts, which consist of two pairs of ...
XY karyotype and disorders of sex development (DSD), Mullerian structures and primary adrenal failure (MIM 612965). After that ... XY sex reversal with primary adrenal failure to male infertility. For the first time, Bashamboo et al. (2010) conducted a study ... The underlying causative factors in the male infertility can be attributed to environmental toxins, systemic disorders such as ... XY karyotype and ambiguous genitalia, gonadal dysgenesis, but no adrenal insufficiency. Since then, studies have confirmed that ...
46XX/46XY, 46XX/47XXY or 45X/XY mosaic). Clinically, medicine currently describes intersex people as having disorders of sex ... The SRY is then activated in only certain areas, causing development of testes in some areas by beginning a series of events ... 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 ...
Disorders of sex development Intersexuality, pseudohermaphroditism, and ambiguous genitalia Hypogonadism and hypogonadotropic ... XY males may be required, and, if necessary, an orchidopexy (relocation of the undescended testes to the scrotum) may be ... 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 ...
... see XY gonadal dysgenesis (also known as Swyer syndrome) Karyotype Disorders of sex development Intersex medical interventions ... XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis (Source attribution, CS1 errors: periodical ignored, ... XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes ... Bouvattier, Claire (1 January 2010). "Disorders of Sex Development". Pediatric Urology (Second Edition). W.B. Saunders: 459-475 ...
XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46, ... 1.1 of Stefan White & Andrew Sinclair: The Molecular Basis of Gonadal Development and Disorders of Sex Development, in: John M ... Disorders of Sex Development. An Integrated Approach to Management, Springer 2012, ISBN 978-3-642-22963-3, e-ISBN 978-3-642- ... DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein ...
IAAF women's competition was affected by the association's new regulations for athletes with XY disorders of sex development, ... Sex verification in sports, Medallists at the 2018 Commonwealth Games, All stub articles, Kenyan athletics biography stubs). ... XY karyotype and an intersex condition after her qualification for ... In 2019, it was revealed that Wambui was born with the 46, ...
XY Disorders of Sexual Development". Pediatric Endocrinology. Retrieved 25 May 2012. Marschall Stevens Runge; Cam Patterson (20 ... in both sexes, as a reduced or absent puberty/lack of development of secondary sexual characteristics, resulting in a somewhat ... Cytochrome b5 deficiency Inborn errors of steroid metabolism Disorders of sexual development Intersexuality, ... Autosomal recessive disorders, Endocrine gonad disorders, Rare diseases, Intersex variations). ...
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 ...
XY genotypic males display a range of disorders of sexual development (DSD) and genital ambiguities or may even develop as ... Those patients with ambiguous genitalia or sex reversal at birth, of course, maintain that state, and are either sterile or ... A Superti‐Furga, S Unger; Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders. In: Genetic Disorders and ... Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and ...
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 ... XY Individuals: Long-Term Medical, Surgical, and Psychosexual Outcome. Pediatrics Vol. 110 No. 3 September 2002, pp. e31. ... while sex-dimorphic behavior and temperamental sex differences appear to be modified by prenatal sex hormones. Meyer-Bahlburg ...
Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and ... Additionally, other sex determining systems that rely on SRY beyond XY are the processes that come after SRY is present or ... 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 ...
XY, and thus gonadectomy is recommended. In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex ... This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual ... Simpson, J.L. (2014). "Disorders of the Gonads, Genital Tract, and Genitalia". Reference Module in Biomedical Sciences: ... Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex ...
... an autosomal recessive condition which results in high androgen levels during fetal development) have more masculinized sex ... Dittmann V, Dilling H (June 1990). "Chapter V (F) of ICD-10: mental, behavioural and developmental disorders--introduction and ... XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation". Archives of Sexual Behavior. 34 (4): ... as sex hormones follow a more "on-off" role in sex-typed behavior than is found in primates. Some studies do suggest that ...
XY Karyotype in a Family with Multiple Disorders of Sexual Development - PMC". The Journal of Clinical Endocrinology and ... This is further expanded by conditions which effect genital development but not hormonal or sex gene expression. Generally most ... The term "disorders of sexual development" was chosen to reflect the variation of sexual development over differences which ... Principles Genetic diagnosis of intersex History of intersex surgery Intersex human rights Disorders of sex development ...
XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46, ... It promotes female sex development and represses male sex development. Loss of function can have serious consequences, such as ... If deficient in XY mice, there is a delay in Sertoli cell differentiation. Moreover, there is delay in sex cord formation. ... WNT4 also interacts with RSPO1 early in development. If both are deficient in XY mice, the outcome is less expression of SRY ...
"Disorders of Sex Development Loci☆". Disorders of Sex Development Loci. Elsevier. doi:10.1016/B978-0-12-809633-8.06552-3. ISBN ... In XY chromosome fetuses, excess androgens result in a functional and average-sized penis with extreme virilisation, but the ... 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- ...
It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique ... Bender B, Puck M, Salbenblatt J, Robinson A (1986). Smith S (ed.). Cognitive development of children with sex chromosome ... Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. If the X chromosome has a ... This disorder causes a once healthy boy to lose all abilities to walk, talk, see, hear, and even swallow. Within 2 years after ...
XX testicular disorder of sex development, also called XX male syndrome, is a condition in which individuals with two X ... Fisher's principle Haldane's rule XY sex-determination system ZW sex-determination system X0 sex-determination system "Allosome ... Polyploidization can occur before and after the development of sex chromosomes. If it occurs after sex chromosomes are ... Genes that are carried by either sex chromosome are said to be sex linked. Sex linked diseases are passed down through families ...
In April 2018, the IAAF announced new rules that required athletes who have certain disorders of sex development that cause ... Semenya is an intersex woman, with 5α-Reductase 2 deficiency, assigned female at birth, with XY chromosomes and natural ... "IAAF Eligibility Regulations for the Female Classification (Athletes with Differences of Sex Development) in force as from 8 ... The IAAF said it confirmed the requirement for a sex verification test after the news had already been reported in the media, ...
Disorders of sexual development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions ... XY DSD or sex chromosome DSD if there is mosaicism (45,X/46,XY). These conditions represent a spectrum of disorders in which ... 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, ...
XY; sex chromosome; XX, sex reversal; ovotesticular disorder; and XY, sex reversal. DSDs are medical conditions encompassing ... 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 ...
XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance: We demonstrate how ... Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. In: PLoS One. 2011 ; Vol. 6, ... Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS One. 2011 Mar 11;6(3): ... Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. / Knower, Kevin C.; Kelly, ...
XY disorder of sex development due to LH defects, see Leydig cell hypoplasia ... XX disorder of sex development (DSD) due to placental aromatase deficiency, see Aromatase deficiency ... XX testicular disorder of sex development, see 46,XX testicular difference of sex development ... 2q23.1 microdeletion syndrome, see MBD5-associated neurodevelopmental disorder. *2q23.1 microduplication syndrome, see MBD5- ...
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the ... XY disorders of sex ... doi: 10.1016/j.ajhg.2010.11.003. Citation on PubMed or Free article on ... ... XY SEX REVERSAL 6; SRXY6 NCBI Gene ClinVar Jara L, Gonzalez- ... Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46, ... XY sex reversal Gonadal dysgenesis, 46,XY Pure gonadal dysgenesis 46, ... gonadal dysgenesis National Organization for Rare ...
MAMLD1 and Differences/Disorders of Sex Development: An Update.. Miyado M, Fukami M, Ogata T. Sex Dev 2022;16(2-3):126-137. ... MAMLD1 and Differences/Disorders of Sex Development: An Update.. Miyado M, Fukami M, Ogata T. Sex Dev 2022;16(2-3):126-137. ... XY disorders of sex development.. Ogata T, Sano S, Nagata E, Kato F, Fukami M. Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 ... XY disorders of sex development.. Ogata T, Sano S, Nagata E, Kato F, Fukami M. Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 ...
XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by ... Pathogenic variants in homozygosis or compound heterozygosis may be responsible for a 46XY Disorder of Sex Development.Case: A ... Disorder of sex development (DSD) includes a wide spectrum of clinical disorders affecting gonadal and genital development. ... XY disorders of sex development associated with MAP3K1variants: Case and review of the literature.. Koçyiğit Esra , ...
XY Disorders of Sex Development. Disorder of Sex Development, 46,XY. C19 - Endocrine System Diseases 46, XY Disorders of Sex ... XY Disorders of Sex Development. Disorder of Sex Development, 46,XY. C16 - Congenital, Hereditary, and Neonatal Diseases and ... XY Disorders of Sex Development. Disorder of Sex Development, 46,XY. C13 - Female Urogenital Diseases and Pregnancy ... F03 - Mental Disorders Multiple Personality Disorder. Dissociative Identity Disorder. F04 - Behavioral Disciplines and ...
XY Disorders of Sex Development. Disorder of Sex Development, 46,XY. C19 - Endocrine System Diseases 46, XY Disorders of Sex ... XY Disorders of Sex Development. Disorder of Sex Development, 46,XY. C16 - Congenital, Hereditary, and Neonatal Diseases and ... XY Disorders of Sex Development. Disorder of Sex Development, 46,XY. C13 - Female Urogenital Diseases and Pregnancy ... F03 - Mental Disorders Multiple Personality Disorder. Dissociative Identity Disorder. F04 - Behavioral Disciplines and ...
... is an autosomal recessive sex-limited condition resulting in the inability to convert testosterone to the more physiologically ... XY disorders of sex development. J Pediatr Endocrinol Metab. 2008 Jun. 21(6):545-53. [QxMD MEDLINE Link]. ... Presentation of 46XY males at puberty. Clear signs of virilization predominate at this age. The escutcheon is male in ... Consensus statement on terminology and management: disorders of sex development. Sex Dev. 2008. 2(4-5):172-80. [QxMD MEDLINE ...
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 ...
XY disorder of sex development. Oliveira, Letícia Ribeiro; Longui, Carlos Alberto; Guaragna-Filho, Guilherme; Costa, José Luiz ... XY disorders of sex development (DSD). METHODS: Nineteen patients with 46,XY DSD were evaluated; all of them were prepubertal ... In response to the rapid development of genetically engineered glyphosate-tolerant crops, the use of glyphosate-based ... In fact, alterations in these processes could contribute to the development of neurological diseases, such as Alzheimers ...
Men are XY. However, genetically, a few women are actually men. They grow up as women with a womans body, and... ... Sex chromosomes usually determine whether you are female or male. Women are XX. ... XY disorders of sex development" was published in September 2016 in the Journal of Clinical Endocrinology and Metabolism. ... Sex chromosomes usually determine whether you are female or male. Women are XX. Men are XY. However, genetically, a few women ...
XY disorder of sex development. The mutations are inherited in an autosomal recessive manner (OMIM *152790). ... Decrease in growth velocity, arrested pubertal development. 4. Özcabı et al. [11] (2015) (Turkey). 6 Months. Pubic hair, acne, ... A 16-month-old boy with premature pubic hair development. The patients pubic hair at 16 months of age was appropriate for ... A 16-month-old boy with premature pubic hair development. The patients pubic hair at 16 months of age was appropriate for ...
XY) and testicular and ovotesticular disorders of sex development, represent rare forms of male hypogonadism. They may result ... Errors of sex determination and gonadal development, such as gonadal dysgenesis (46,XX or 46, ... Other causes are disorders of sexual development such as gonadal dysgenesis (rare), cryptorchidism Cryptorchidism ... Several acute disorders and chronic systemic disorders (eg, chronic renal insufficiency, anorexia nervosa) may lead to ...
Complete androgen insensitivity syndrome (CAIS) is one of the most common causes of sex development disorders, its presented ... XY karyotype and unrestricted testicular development. The underlying condition is a peripheral resistance towards all ... Keywords: androgen-insensitivity syndrome, dihydrotestosterone receptor deficiency, sex differentiation disorders, hernia, ... Journal of Human Growth and Development. versão impressa ISSN 0104-1282. versão On-line ISSN 2175-3598. J. Hum. Growth Dev. vol ...
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true ... Normal sexual differentiation is based on genetic sex (XX or XY), which is established at conception. Until 7 weeks of ... MRI demonstrating uterus and vagina in a 46XY infant. Courtesy of BMC Springer Nature [Scarpa MG, Lesma A, Di Grazia M, et al. ... Josso N, Audi L, Shaw G. Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex ...
... determine the rabbits sex. Male rabbits have one X chromosome and one Y chromosome (XY), while female rabbits have two X ... Mutations or changes in chromosome number can be passed down from one generation to the next, leading to genetic disorders or ... Each chromosome contains numerous genes that act as instructions for the development and functioning of various traits, such as ... The remaining 22 pairs are autosomes, which determine all other genetic traits apart from sex. Each pair of autosomes carries a ...
XY Disorders of Sex Development 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiency. 17-. p-. bromophenylcarbamoyloxypregn-. 4- ... 20986-46-3 Androstenedione/*analogs & derivatives 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/antagonists & inhibitors. Steroids 1988 ...
It occurs when, instead of 46 chromosomes in the human cell, a total of 47 are present, wherein the extra chromosome is an X ... Klinefelter Syndrome is a genetic sex disorder that occurs due to an error during sex cell division. ... The sex chromosomes are XX (females) and XY (males). It is the presence of the Y chromosome that leads to the development of a ... Klinefelter Syndrome is a genetic sex disorder that occurs due to an error during sex cell division. It occurs when, instead of ...
Gonadal Disorders [C19.391] * Disorders of Sex Development [C19.391.119] * Disorder of Sex Development, 46,XY [C19.391.119.096] ... XY [C12.200.706.316.096] * Androgen-Insensitivity Syndrome [C12.200.706.316.096.500] * Denys-Drash Syndrome [C12.200.706.316. ... Disorders of Sex Development [C12.050.351.875.253] * Disorder of Sex Development, 46,XY [C12.050.351.875.253.096] * Androgen- ... Disorders of Sex Development [C12.800.316] * Disorder of Sex Development, 46,XY [C12.800.316.096] * Androgen-Insensitivity ...
In dogs, the XX;SRY-negative disorder of sexual development (DSD) is the most frequent condition. The disorder typically ... The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic ... Albeit rare, disorders of the gonadal differentiation may occur in men and domestic animals and may cause infertility or ... This condition may be inherited as a sex-limited autosomal recessive trait; however, the mechanism explaining its occurrence ...
Kejadian ini dapat diartikan sebagai Disorder Sex Development (DSD) atau istilah yang merujuk pada seseorang yang lahir dengan ... XY, pola yang normalnya ditemukan pada pria yang alat kelaminnya tidak jelas apakah pria atau wanita. ... Tes genetik menunjukkan bahwa kariotipe (pengambilan foto kromosom) menunjukkan kode 46, ...
XY Disorders of Sex Development. Shojaei Azadeh, et al. Reports of biochemistry & molecular biology 2017 0 (1) 59-65 ... XY differences of sex development. Nagy Orsolya, et al. Molecular biology reports 2019 0 (5) 5595-5601 ... Content source: Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics, National Center on ... probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46, ...
Major depressive disorder (MDD), also referred to as depression, is one of the most common psychiatric disorders with a high ... Publication in academic journals plays an important role in the development and progress of any profession, including nursing ( ... Sharing data, code, and detailed research methods and results leads to faster progress in methodological development and ... the development of a more evidence-based approach is needed. Manuscript review is the final step in the research process, and ...
... suggesting the influence of sex hormones in the development of ATD (9). Diagnosis is established by detecting positive serum ... While arthropathies and connective tissue disorders were shown to be the most common coexisting autoimmune disorders in adults ... XY males and similar to the risk seen in 46,XX females (115), pointing toward the role of the number of X chromosomes and in ... a) Prevalence of autoimmune thyroid disorders and (b) associated non-autoimmune thyroid disorders in pediatric patients with TS ...
"Intersex" and "disorder of sex development" are terms used for a variety of conditions in which a person is born with a ... We just talked about XY males that are either gender ambiguous or inter sexed. I think these point to the fact that there does ... The fact that it is very difficult to turn a 46XY child into a girl is not a surprise to those of us who propose social ... This means that the default sex is no longer surgery to make an XY boy look female. They also try to reconstruct male genitalia ...
... and a fetus affected with one of the various disorders of sexual development. NIPS did not include the option of fetal sex ... NIPS results were normal, but karyotyping of fetal tissue revealed 47,XY,+21 in all cells. ... Apparent sex discordance can have a variety of causes, including inaccurate sex assessment on ultrasound, a co-twin demise, the ... Sex assessment. NIPS results can also include fetal sex assessment, raising the possibility of normal results that are ...
Learn and reinforce your understanding of Disorders of sex chromosomes: Pathology review. ... Disorders of sex chromosomes: Pathology review Videos, Flashcards, High Yield Notes, & Practice Questions. ... Ovotesticular Disorder of Sex Development: An Unusual Presentation Journal of Clinical Imaging Science. (2019) ... XY is genetically male. And since theres only one X chromosome to begin with, theres generally no Barr body. ...
Diet copper-fructose interactions alter gut microbial activity and contribute to the development of nonalcoholic fatty liver ... XY gonadal male and female) allows for the identification of whether sex differences arise from the sex chromosome complement. ... sex hormones are one of the factors leading to sex differences in copper-fructose interaction-induced metabolic disorders (26 ... Sex hormones and sex chromosome are two major factors driving sex differences (7). The role of sex hormones has been ...
  • XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated SRY and the second with no SRY gene. (wikipedia.org)
  • XY, Sex reversal: patients with female phenotypes where duplication in the Xp21.2 region of the X chromosome that contains the NR0B1 (DAX1) gene is associated with XY sex reversal. (wikipedia.org)
  • Female phenotype and sex reversal are often reported in 46,XY patients with 5α-Reductase Type 2 Deficiency (5αRD2). (eurospe.org)
  • We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription. (port.ac.uk)
  • Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. (eurospe.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)
  • For example, the Flemish Giant rabbit breed is known to have an extra pair of chromosomes, resulting in a total of 46 chromosomes instead of the usual 44. (reproduction-online.org)
  • However, when the male body consists of 47 chromosomes instead of the usual 46, wherein the extra chromosome is an X sex chromosome, it results into a sex chromosome disorder called Klinefelter Syndrome. (healthhearty.com)
  • Ovotesticular disorder: patients having both ovarian and testicular tissue. (wikipedia.org)
  • Women with gonadal dysgenesis have a mutation in the SRY gene of the Y chromosome that encodes for a protein known as the testicular determining factor that normally results in the testicles developing in the early weeks of foetal development. (sciencenews.dk)
  • Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)
  • Even though Disorders of Sex Development (DSD) are rare genetic conditions in dogs, the most common in occurrence is the testicular (T-DSD) or ovotesticular (OT-DSD) disorder, presenting a female karyotype and a lack of the SRY (sex-determining region Y) gene (78,XX;SRY-negative DSD) [ 1. Salamon S, Nowacka-Woszuk J, Switonski M. Polymorphism of the CTNNB1 and FOXL2 genes is not associated with canine XX testicular/ovotesticular disorder of sex development. Folia Biol. 2015; 63: 57-62. [ CrossRef ] ">1 ]. (lidsen.com)
  • 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)
  • Consensus statement on management of intersex disorders. (nih.gov)
  • Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
  • Intersex" and "disorder of sex development" are terms used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn't seem to fit the typical definitions of female or male. (crossdreamers.com)
  • Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
  • Many patients with ovotesticular disorder of sexual development have a uterus. (medscape.com)
  • This error contributes an extra sex chromosome to the body. (healthhearty.com)
  • Now, individuals with sex chromosome disorders have aneuploidy , meaning that there's a missing or extra sex chromosome. (osmosis.org)
  • Klinefelter Syndrome is a genetic sex disorder that occurs due to an error during sex cell division. (healthhearty.com)
  • XYY chromosome pattern is a disorder of male genetic sex chromosome number where instead of normal 46 XY pattern there is an extra Y chromosome making it 47 XYY. (askadoctor24x7.com)
  • This led to the Chicago Consensus, recommending a new terminology based on the umbrella term disorders of sex differentiation. (wikipedia.org)
  • Albeit rare, disorders of the gonadal differentiation may occur in men and domestic animals and may cause infertility or sterility. (lidsen.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)
  • Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. (wikipedia.org)
  • Genetic control of typical and atypical sex development. (nih.gov)
  • Aromatase deficiency - A disorder which, in females, is characterized by androgen excess and estrogen deficiency, and can result in inappropriate virilization, though without pseudohermaphroditism (i.e., genitals are phenotypically appropriate) (with the exception of the possible incidence of clitoromegaly). (wikipedia.org)
  • Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. (eurospe.org)
  • Morris syndrome is now called 46,XY DSD: androgen insensitivity syndrome. (sciencenews.dk)
  • These people have an extremely high level of testosterone and other male sex hormones, but the testosterone does not affect the foetal cells that usually develop into male sexual organs because of a mutation in the androgen receptor gene. (sciencenews.dk)
  • It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. (bvsalud.org)
  • DSDs are divided into following categories, emphasizing the karyotype's role in diagnosis: 46,XX DSD: Genetic Female Sex Chromosomes. (wikipedia.org)
  • Specific questions should be asked regarding relatives with disorders of sexual development (DSDs), neonatal deaths, amenorrhea, or infertility and consanguinity. (medscape.com)
  • All children presented with a female phenotype (EGS 3-4), palpable gonads, absent uterus, and 46,XY karyotype. (eurospe.org)
  • Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. (eurospe.org)
  • Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon. (eurospe.org)
  • Genital ambiguity is occasionally diagnosed prenatally when an infant who is demonstrated by amniocentesis or chorionic villus sampling to have XY karyotype fails to have a demonstrable penis on ultrasonography. (medscape.com)
  • Parental consanguinity increases the child's risk for autosomal recessive disorders including 5-alpha reductase type 2 deficiency. (medscape.com)
  • Myotonic Dystrophy Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
  • out of which 22 pairs are autosomal, and 1 pair consists of sex choromosomes, which can be X or Y. Generally, an individual with two X chromosomes, or 46,XX is considered to be genetically female. (osmosis.org)
  • Girls born with XY chromosomes are genetically boys but for a variety of reasons - mutations in genes that determine sexual development - the male characteristics are never expressed. (sciencenews.dk)
  • A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. (nih.gov)
  • On the other hand, an individual with one X and one Y chromosome, or 46,XY is genetically male. (osmosis.org)
  • Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. (nih.gov)
  • The SRD5A2 gene (MIM607306) codes for the type 2 5α-reductase enzyme that catalyzes the conversion of testosterone to its active metabolite, dihydrotestosterone (DHT), essential for the development of the male external genitalia. (eurospe.org)
  • The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. (eurospe.org)
  • By unveiling tissue-specific gene expression alterations and metabolic disruptions caused by thyroid dysfunction, our work lays a foundation for future investigations to explore underlying mechanisms and develop targeted strategies for managing iron-related complications in thyroid disorders. (bvsalud.org)
  • This report presents an extremely rare case of FMPP with an activating mutation of the LHCGR gene in a Korean boy who presented with precocious pubertal development at 16 months of age and a positive familial history of precocious puberty. (e-apem.org)
  • 46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management. (musc.edu)
  • The remaining 22 pairs are autosomes, which determine all other genetic traits apart from sex. (reproduction-online.org)
  • With 44 chromosomes divided into sex chromosomes and autosomes, rabbits possess a unique genetic code that contributes to their distinct traits and behaviors. (reproduction-online.org)
  • In a human cell, there exists 44 autosomes and two sex chromosomes. (healthhearty.com)
  • Every male cell consists of 44 autosomes and XY sex chromosome. (healthhearty.com)
  • Mutations or changes in chromosome number can be passed down from one generation to the next, leading to genetic disorders or health issues in offspring. (reproduction-online.org)
  • these were previously referred to as Morris syndrome and Swyer syndrome but are now collectively referred to as disorders of sex development (DSD). (sciencenews.dk)
  • When these children reach puberty, their body produces lesser testosterone as compared to those males with the XY chromosome. (healthhearty.com)
  • Dr. Milton Diamond of the University of Hawaii had studied the sexual development of guinea pigs and found that they changed behavior according to the amount of testosterone they had been exposed to in the uterus. (crossdreamers.com)
  • Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life. (nih.gov)
  • Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis. (nih.gov)
  • The aim of this study is to determine whether dietary copper-fructose interactions alter gut microbial activity in a sex-differential manner, and whether sex differences in gut microbial activity are associated with sex differences in hepatic steatosis. (researchsquare.com)
  • Our data demonstrated sex differences in the alterations of gut microbial activities and hepatic steatosis in response to dietary copper-fructose interaction in rats. (researchsquare.com)
  • Tissue-specific responses to dietary copper and fructose likely contribute to the sex differences in gut microbial activity and metabolic phenotype. (researchsquare.com)
  • Of note, NAFLD and NASH exhibit age and sex differences, with a higher prevalence in men than in premenopausal women. (researchsquare.com)
  • Biological sex differences are exhibited in many physiological phenomenon, including fat distribution, triglyceride storage in liver and muscle ( 10 ), fatty acid and glucose metabolism ( 11 ), etc. (researchsquare.com)
  • Therefore, understanding sex differences in physiology and pathophysiology is required for precision medicine. (researchsquare.com)
  • Sex chromosome DSD: patients with sex chromosome aneuploidy or mosaic sex karyotypes. (wikipedia.org)
  • It is also seen as a Mosaic pattern with XY as XY/XY. (askadoctor24x7.com)
  • Over the years, sex assignment in case of early diagnosis evolved from female to male. (eurospe.org)
  • Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. (eurospe.org)
  • 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)
  • When males have an XXY pattern instead of the usual XY pattern, then, the condition is termed as Klinefelter syndrome. (healthhearty.com)
  • Not all males who have the extra X sex chromosome suffer from this syndrome. (healthhearty.com)
  • Physical, linguistic, and social development are three areas affected by this syndrome. (healthhearty.com)
  • Turner syndrome is a chromosomal condition involving a person's sex chromosomes. (healthline.com)
  • Turner syndrome results when one of the X chromosomes (sex chromosomes) is missing or partially missing following conception. (healthline.com)
  • Because so much genetic information is missing at such an early stage of development, Turner syndrome can cause a variety of medical and developmental concerns, including failure of the ovaries to develop, heart defects, and short height. (healthline.com)
  • 2016). Patients with sleep disorders are more likely to tests to assess the apparent anatomical or structural cause experience Burning Syndrome. (bvsalud.org)
  • The first two pairs, known as sex chromosomes, determine the rabbit's sex. (reproduction-online.org)
  • Sometimes the XX or XY pairs fail to exchange genetic material. (healthhearty.com)
  • Each person is born with 23 pairs of chromosomes - 46 total - including one pair of sex chromosomes, X and Y. (healthline.com)
  • Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). (eurospe.org)
  • This genetic disorder is seen to affect the sexual development of males and prevents the testes from functioning normally. (healthhearty.com)
  • In dogs, the XX;SRY-negative disorder of sexual development (DSD) is the most frequent condition. (lidsen.com)
  • 46,XY DSD: Genetic Male Sex Chromosomes. (wikipedia.org)
  • Aphallia - A rare condition where a XY male is born without a penis. (wikipedia.org)
  • A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. (port.ac.uk)
  • Sex chromosomes usually determine whether you are female or male. (sciencenews.dk)
  • Familial male-limited precocious puberty (FMPP) is a rare disorder characterized by early onset gonadotropin-independent precocious puberty. (e-apem.org)
  • Male rabbits have one X chromosome and one Y chromosome (XY), while female rabbits have two X chromosomes (XX). (reproduction-online.org)
  • When such a sperm already having an XY chromosome pair within itself fertilizes an egg with single X chromosome, it results in an XXY male. (healthhearty.com)
  • The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. (lidsen.com)
  • A genetic test told the doctors that he had male chromosomes (46 XY) and that the testicles were intact. (crossdreamers.com)
  • Regulation of SOX9 in human sex determination is however poorly understood. (port.ac.uk)
  • We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. (port.ac.uk)
  • Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. (port.ac.uk)
  • [ 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)
  • In all documented biopsied cases, there is a significant decline in germ cell development and an increase in tubular sclerosis by puberty. (medscape.com)
  • However, the paradigm of early gender assignment has been challenged by the results of clinical and basic science research, which show that gender identity development likely begins in utero and may not be the same as chromosomal or phenotypic sex. (medscape.com)
  • It may mean a person has external characteristics of one sex but internal reproductive anatomy of another sex. (healthline.com)
  • While the external reproductive anatomy may appear to be female, some or all of the pair of sex chromosomes, which typically determine the physical characteristics of reproductive anatomy, may be missing the second X chromosome. (healthline.com)
  • The disorder typically presents a wide spectrum of developmental conditions of the gonad and variable virilization of the genital phenotype, that may be accompanied by hypospadias. (lidsen.com)
  • Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
  • The extra X chromosome is the result of nondisjunction of the sex chromosome during cell division (meiosis). (healthhearty.com)
  • Claus Højbjerg Gravholt's group focuses intensively on the resulting diseases associated with sex chromosome abnormalities. (sciencenews.dk)
  • Some chromosomal disorders may result in physical deformities, developmental delays, or increased susceptibility to certain diseases. (reproduction-online.org)
  • The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
  • Medically, the term simply means a person has biological traits of more than one sex. (healthline.com)
  • LH and FSH bind to receptors in the testis and ovary and regulate gonadal function by promoting sex steroid production and gametogenesis. (medscape.com)
  • In this review article the incidence, as well as the clinical manifestation and accompanied pathologies of ATD in specific genetic syndromes will be presented and regular follow-up for the early identification of the disorder will be proposed. (frontiersin.org)
  • Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. (eurospe.org)
  • Degeneration and hyalinization of the seminiferous tubules with poor germ cell development is frequently observed. (medscape.com)
  • Together with colleagues, he is investigating why sex chromosome abnormalities occur and therefore how people with XY chromosomes can become women. (sciencenews.dk)
  • ATD can occur either isolated or in the context of other autoimmune disorders, such as type 1 Diabetes mellitus (T1D), celiac disease, alopecia areata, vitiligo, etc. (frontiersin.org)
  • Conversion of hyperthyroidism to hypothyroidism and vice versa may also occur, implying that these two disorders may represent opposite sides of the same coin. (frontiersin.org)
  • 46 (23%) patients were diagnosed with LABC, and had undergone chemotherapy first for downstage of the disease. (who.int)
  • In which 6.5% (10 patients out of 152) in upfront surgery group and 15.2% (7 patients out of 46) in LABC group developed local recurrence. (who.int)
  • Gonadal Dysgenesis, 46,XX" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
  • It occurs when, instead of 46 chromosomes in the human cell, a total of 47 are present, wherein the extra chromosome is an X chromosome. (healthhearty.com)
  • This genetic disorder is not inherited and is a random event that occurs at the time of reproductive cell formation. (healthhearty.com)
  • Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. (wikipedia.org)
  • This graph shows the total number of publications written about "Gonadal Dysgenesis, 46,XX" by people in this website by year, and whether "Gonadal Dysgenesis, 46,XX" was a major or minor topic of these publications. (musc.edu)

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