Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
Gonadoblastoma
Turner Syndrome
Sex-Determining Region Y Protein
Gonadal Dysgenesis, 46,XX
Dermatoglyphics
Disorders of Sex Development
Thyroid Dysgenesis
Sex Chromosome Aberrations
46, XY Disorders of Sex Development
Mosaicism
Sex Determination Analysis
Frasier Syndrome
Dysgerminoma
Sexual Development
Neoplasms, Gonadal Tissue
X Chromosome
Clitoris
Genes, sry
Y Chromosome
Steroidogenic Factor 1
Sex Chromosomes
DAX-1 Orphan Nuclear Receptor
Chromosome Banding
Testis
Phenotype
Anterior Eye Segment
SOX9 Transcription Factor
Agenesis of Corpus Callosum
Mutation
Transcription Factors
Pedigree
Dibutyl Phthalate
Hybridization, Genetic
Congenital Hypothyroidism
DNA-Binding Proteins
Gonadal dysgenesis is a condition characterized by the abnormal development of the gonads, which are the reproductive organs that produce sex hormones and gametes (sperm or eggs). In individuals with gonadal dysgenesis, the gonads may be underdeveloped, structurally abnormal, or completely absent. This condition can affect people of any gender and is often associated with other genetic disorders, such as Turner or Klinefelter syndromes.
The clinical presentation of gonadal dysgenesis varies widely depending on the severity of the disorder and the presence of other associated conditions. Some individuals may have normal sexual development and fertility, while others may experience delayed puberty, infertility, or ambiguous genitalia. Gonadal dysgenesis can also increase the risk of developing gonadal tumors, particularly in individuals with complete or partial absence of the gonads.
The diagnosis of gonadal dysgenesis is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. Treatment may include hormone replacement therapy to support sexual development and prevent complications associated with hormonal imbalances. In some cases, surgical removal of the gonads may be recommended to reduce the risk of tumor development.
Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.
The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.
Gonadal dysgenesis, mixed is a medical condition that refers to the abnormal development and function of the gonads (ovaries or testes). In this form of gonadal dysgenesis, both ovarian and testicular tissues are present in the same individual, but they are not properly organized or functioning. This can lead to ambiguous genitalia, infertility, and an increased risk of developing gonadal tumors. The condition is often associated with genetic disorders such as Turner, Klinefelter, or other sex chromosome abnormalities.
Gonadoblastoma is a rare, typically benign, slow-growing tumor that primarily affects the gonads (ovaries or testes). It most commonly occurs in individuals with disorders of sexual development, particularly those with gonadal dysgenesis and a 46,XY karyotype. The tumor is composed of germ cells and sex cord stromal cells, which differentiate into various cell types found within the gonads.
Gonadoblastomas are usually asymptomatic and are often discovered incidentally during imaging studies or surgical procedures for other conditions. In some cases, they may produce hormones leading to precocious puberty or virilization. Although typically benign, there is a risk of malignant transformation into germ cell tumors such as dysgerminoma, seminoma, or teratoma. Regular follow-up and monitoring are essential for early detection and management of potential complications. Treatment usually involves surgical removal of the affected gonad.
Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.
The Sex-Determining Region Y (SRY) protein is a transcription factor that plays a critical role in male sex determination. It is encoded by the SRY gene, which is located on the Y chromosome in humans and many other mammal species. The primary function of the SRY protein is to initiate the development of the testes during embryonic development.
In the absence of a functional SRY protein, the gonads will develop into ovaries. With a functional SRY protein, the gonads will develop into testes, which then produce androgens, including testosterone, that are necessary for the development of male secondary sexual characteristics. Mutations in the SRY gene can lead to sex reversal, where an individual with a Y chromosome develops as a female due to non-functional or absent SRY protein.
Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).
Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.
The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.
Dermatoglyphics is the study of the fingerprints, palm prints, and other skin ridge patterns found on the hands and feet. These patterns are formed during fetal development and are generally considered to be unique to each individual. Dermatoglyphics can provide important clues about a person's genetic makeup and health status, and they are often used in forensic investigations to help identify individuals. In medicine, dermatoglyphics may be used to help diagnose certain genetic disorders or birth defects.
Disorders of Sex Development (DSD) are a group of conditions that occur when there is a difference in the development and assignment of sex characteristics. These differences may be apparent at birth, at puberty, or later in life. DSD can affect chromosomes, gonads, genitals, or secondary sexual characteristics, and can result from genetic mutations or environmental factors during fetal development.
DSDs were previously referred to as "intersex" conditions, but the term "Disorders of Sex Development" is now preferred in medical settings because it is more descriptive and less stigmatizing. DSDs are not errors or abnormalities, but rather variations in human development that require sensitive and individualized care.
The diagnosis and management of DSD can be complex and may involve a team of healthcare providers, including endocrinologists, urologists, gynecologists, psychologists, and genetic counselors. Treatment options depend on the specific type of DSD and may include hormone therapy, surgery, or other interventions to support physical and emotional well-being.
Thyroid dysgenesis is a developmental disorder that affects the thyroid gland, which is a small butterfly-shaped gland located in the front of the neck. The thyroid gland is responsible for producing hormones that regulate metabolism, growth, and development.
In thyroid dysgenesis, the thyroid gland fails to develop properly during fetal development or early childhood. This can result in a range of abnormalities, including:
* Athyreosis: Complete absence of the thyroid gland.
* Hypoplasia: Underdevelopment of the thyroid gland, resulting in a smaller than normal gland.
* Ectopy: Displacement of the thyroid gland from its normal location in the neck to elsewhere in the body, such as the chest or tongue.
* Heterotopy: Presence of thyroid tissue in abnormal locations, such as within the thymus gland or along the course of the thyroglossal duct.
Thyroid dysgenesis can lead to hypothyroidism, a condition characterized by low levels of thyroid hormones in the body. Symptoms of hypothyroidism may include fatigue, weight gain, cold intolerance, constipation, dry skin, and depression. Treatment typically involves replacement therapy with synthetic thyroid hormones.
Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.
Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.
It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.
'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.
There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.
Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.
Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.
Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.
Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.
Sex determination analysis is a medical or biological examination used to establish the genetic or phenotypic sex of an individual. This can be done through various methods, including:
1. Genetic testing: Examination of an individual's DNA to identify the presence of specific sex chromosomes (XX for females and XY for males). This is typically performed through a blood or tissue sample.
2. Chromosomal analysis: Microscopic examination of an individual's chromosomes to determine their number and structure. In humans, females typically have 46 chromosomes, including two X chromosomes (46,XX), while males typically have 46 chromosomes, including one X and one Y chromosome (46,XY).
3. Phenotypic analysis: Observation of an individual's physical characteristics, such as the presence or absence of certain sex organs or secondary sexual characteristics, to determine their phenotypic sex.
Sex determination analysis is used in various medical and research contexts, including prenatal testing, diagnosis of disorders of sex development (DSDs), forensic investigations, and population studies. It's important to note that while sex determination analysis can provide information about an individual's genetic or phenotypic sex, it does not necessarily reflect their gender identity, which is a personal sense of being male, female, or something else.
I'm sorry for any confusion, but "Frasier Syndrome" is not a recognized medical condition or syndrome in the standard medical literature. It seems like it might be a term that is specific to a certain context or fictional work. In popular culture, "Frasier" is a television show about a character named Frasier Crane, and it's possible that "Frasier Syndrome" could refer to something within the realm of that fiction. However, without more specific information about where you encountered this term, I cannot provide an accurate definition.
Dysgerminoma is a type of germ cell tumor that develops in the ovaries. It is a malignant (cancerous) tumor that primarily affects girls and women of reproductive age, although it can occur at any age. Dysgerminomas are composed of large, round, or polygonal cells with clear cytoplasm and distinct cell borders, arranged in nests or sheets. They may also contain lymphoid aggregates and may produce hormones such as estrogen or testosterone.
Dysgerminomas are usually unilateral (affecting one ovary), but they can be bilateral (affecting both ovaries) in about 10-15% of cases. They tend to grow and spread rapidly, so early detection and treatment are crucial for a favorable prognosis.
The standard treatment for dysgerminoma is surgical removal of the affected ovary or ovaries, followed by chemotherapy with agents such as bleomycin, etoposide, and cisplatin (BEP). With appropriate treatment, the five-year survival rate for patients with dysgerminoma is high, ranging from 80% to 95%.
Sexual development is a multidimensional process that includes physical, cognitive, emotional, and social aspects. It refers to the changes and growth that occur in an individual from infancy to adulthood related to sexuality, reproduction, and gender identity. This process involves the maturation of primary and secondary sex characteristics, the development of sexual attraction and desire, and the acquisition of knowledge about sexual health and relationships.
Physical aspects of sexual development include the maturation of reproductive organs, hormonal changes, and the development of secondary sexual characteristics such as breast development in females and facial hair growth in males. Cognitive aspects involve the development of sexual knowledge, attitudes, and values. Emotional aspects refer to the emergence of sexual feelings, desires, and fantasies, as well as the ability to form intimate relationships. Social aspects include the development of gender roles and identities, communication skills related to sexuality, and the ability to navigate social norms and expectations around sexual behavior.
Sexual development is a complex and ongoing process that is influenced by various factors such as genetics, hormones, environment, culture, and personal experiences. It is important to note that sexual development varies widely among individuals, and there is no one "normal" or "correct" way for it to unfold.
A neoplasm of gonadal tissue refers to an abnormal growth or tumor that develops in the reproductive organs, specifically the ovaries in women and the testes in men. These tumors can be benign (non-cancerous) or malignant (cancerous), and their growth can interfere with the normal function of the gonads.
Gonadal tissue neoplasms can have various causes, including genetic mutations, environmental factors, and hormonal imbalances. The symptoms of these tumors may vary depending on their size, location, and type, but they can include pelvic pain, bloating, abnormal menstruation, or a palpable mass in the affected area.
It is essential to diagnose and treat gonadal tissue neoplasms as early as possible to prevent complications such as infertility, metastasis, or death. Diagnostic procedures may include imaging tests, blood tests, and biopsies, while treatment options may include surgery, radiation therapy, chemotherapy, or hormone therapy.
The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).
The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:
1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.
The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.
The clitoris is an important female sex organ that is primarily responsible for sexual arousal and pleasure. It is a small, highly sensitive piece of tissue located at the front of the vulva, where the labia minora meet. The clitoris is made up of two parts: the visible part, known as the glans clitoris, and the hidden part, called the corpora cavernosa and crura.
The glans clitoris is a small knob-like structure that is covered by a hood, or prepuce, and is located at the top of the vulva. It contains a high concentration of nerve endings, making it highly sensitive to touch and stimulation. The corpora cavernosa and crura are the internal parts of the clitoris, which are made up of sponge-like erectile tissue that becomes engorged with blood during sexual arousal, leading to clitoral erection.
The clitoris plays a crucial role in female sexual response and pleasure. During sexual arousal, the clitoris swells and becomes more sensitive to touch, which can lead to orgasm. The clitoris is also an important source of sexual pleasure during masturbation and partnered sexual activity. Despite its importance in female sexuality, the clitoris has historically been overlooked or stigmatized in many cultures, leading to a lack of understanding and education about this vital organ.
"SRY" (Sex Determining Region Y) is not a gene itself but a specific region on the Y chromosome that contains the genetic information necessary to initiate male sex determination. The SRY region encodes a protein called the testis-determining factor (TDF), which plays a crucial role in the development of the male phenotype by triggering the differentiation of the gonadal ridge into testes.
The SRY gene is typically found only on the Y chromosome and is considered one of the primary genetic factors that distinguish males from females in many mammalian species, including humans. Mutations or abnormalities in the SRY region can lead to sex chromosome-related disorders of sexual development (DSDs), such as Swyer syndrome or XY female disorder of sex development, where individuals with a 46,XY karyotype develop female phenotypes due to the absence or dysfunction of the SRY protein.
The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.
The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.
It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.
Gonads are the reproductive organs that produce gametes (sex cells) and sex hormones. In males, the gonads are the testes, which produce sperm and testosterone. In females, the gonads are the ovaries, which produce eggs and estrogen and progesterone. The development, function, and regulation of the gonads are crucial for reproductive health and fertility.
Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.
"Sex determination processes" refer to the series of genetic and biological events that occur during embryonic and fetal development which lead to the development of male or female physical characteristics. In humans, this process is typically determined by the presence or absence of a Y chromosome in the fertilized egg. If the egg has a Y chromosome, it will develop into a male (genetically XY) and if it does not have a Y chromosome, it will develop into a female (genetically XX).
The sex determination process involves the activation and repression of specific genes on the sex chromosomes, which direct the development of the gonads (ovaries or testes) and the production of hormones that influence the development of secondary sexual characteristics. This includes the development of internal and external genitalia, as well as other sex-specific physical traits.
It is important to note that while sex is typically determined by genetics and biology, gender identity is a separate construct that can be self-identified and may not align with an individual's biological sex.
Steroidogenic Factor 1 (SF-1 or NR5A1) is a nuclear receptor protein that functions as a transcription factor, playing a crucial role in the development and regulation of the endocrine system. It is involved in the differentiation and maintenance of steroidogenic tissues such as the adrenal glands, gonads (ovaries and testes), and the hypothalamus and pituitary glands in the brain.
SF-1 regulates the expression of genes that are essential for steroid hormone biosynthesis, including enzymes involved in the production of cortisol, aldosterone, and sex steroids (androgens, estrogens). Mutations in the SF-1 gene can lead to various disorders related to sexual development, adrenal function, and fertility.
In summary, Steroidogenic Factor 1 is a critical transcription factor that regulates the development and function of steroidogenic tissues and the biosynthesis of steroid hormones.
Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.
DAX-1 (Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that functions as a transcriptional regulator. It is also known as NR0B1 (Nuclear Receptor Subfamily 0, Group B, Member 1).
DAX-1 plays crucial roles in various developmental processes, including sexual differentiation and adrenal gland development. Mutations in the DAX-1 gene have been associated with X-linked adrenal hypoplasia congenita (AHC), a condition characterized by defective adrenal gland development and primary adrenal insufficiency.
The term "Orphan Nuclear Receptor" refers to a class of nuclear receptors for which no natural ligand has been identified yet. DAX-1 is one such orphan nuclear receptor, as its specific endogenous ligand remains unknown. However, recent studies suggest that steroids and other small molecules might interact with DAX-1 and modulate its activity.
Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.
The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.
R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.
Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.
Amenorrhea is a medical condition characterized by the absence or cessation of menstrual periods in women of reproductive age. It can be categorized as primary amenorrhea, when a woman who has not yet had her first period at the expected age (usually around 16 years old), or secondary amenorrhea, when a woman who has previously had regular periods stops getting them for six months or more.
There are various causes of amenorrhea, including hormonal imbalances, pregnancy, breastfeeding, menopause, extreme weight loss or gain, eating disorders, intense exercise, stress, chronic illness, tumors, and certain medications or medical treatments. In some cases, amenorrhea may indicate an underlying medical condition that requires further evaluation and treatment.
Amenorrhea can have significant impacts on a woman's health and quality of life, including infertility, bone loss, and emotional distress. Therefore, it is essential to consult with a healthcare provider if you experience amenorrhea or missed periods to determine the underlying cause and develop an appropriate treatment plan.
The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.
The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.
Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.
Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.
Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:
1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.
These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
The anterior eye segment refers to the front portion of the eye, which includes the cornea, iris, ciliary body, and lens. The cornea is the clear, dome-shaped surface at the front of the eye that refracts light entering the eye and provides protection. The iris is the colored part of the eye that controls the amount of light reaching the retina by adjusting the size of the pupil. The ciliary body is a muscle that changes the shape of the lens to focus on objects at different distances. The lens is a transparent structure located behind the iris that further refracts light to provide a clear image. Together, these structures work to focus light onto the retina and enable vision.
SOX9 (SRY-related HMG-box gene 9) is a transcription factor that belongs to the SOX family of proteins, which are characterized by a high mobility group (HMG) box DNA-binding domain. SOX9 plays crucial roles in various developmental processes, including sex determination, chondrogenesis, and neurogenesis.
As a transcription factor, SOX9 binds to specific DNA sequences in the promoter or enhancer regions of its target genes and regulates their expression. In the context of sex determination, SOX9 is essential for the development of Sertoli cells in the male gonad, which are responsible for supporting sperm production. SOX9 also plays a role in maintaining the undifferentiated state of stem cells and promoting cell differentiation in various tissues.
Mutations in the SOX9 gene have been associated with several human genetic disorders, including campomelic dysplasia, a severe skeletal disorder characterized by bowed legs, and sex reversal in individuals with XY chromosomes.
Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.
This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Dibutyl phthalate (DBP) is a synthetic chemical compound that belongs to a class of chemicals called phthalates. It is a colorless, oily liquid with a mild odor and is widely used as a plasticizer to make plastics more flexible and durable. DBP is commonly added to polyvinyl chloride (PVC) products such as vinyl flooring, wall coverings, shower curtains, and consumer products like cosmetics, personal care products, and cleaning solutions.
In medical terms, DBP has been identified as a reproductive toxicant and endocrine disruptor, which means it can interfere with the body's hormonal system and potentially affect reproductive health. Studies have shown that exposure to DBP during pregnancy may be associated with adverse outcomes such as reduced fetal growth, abnormalities in male reproductive development, and behavioral problems in children.
Therefore, it is important to limit exposure to DBP and other phthalates, especially for pregnant women and young children. Some steps you can take to reduce your exposure include avoiding plastic containers with the recycling codes 3 or 7 (which may contain phthalates), choosing personal care products that are labeled "phthalate-free," and using natural cleaning products whenever possible.
Genetic hybridization is a biological process that involves the crossing of two individuals from different populations or species, which can lead to the creation of offspring with new combinations of genetic material. This occurs when the gametes (sex cells) from each parent combine during fertilization, resulting in a zygote with a unique genetic makeup.
In genetics, hybridization can also refer to the process of introducing new genetic material into an organism through various means, such as genetic engineering or selective breeding. This type of hybridization is often used in agriculture and biotechnology to create crops or animals with desirable traits, such as increased disease resistance or higher yields.
It's important to note that the term "hybrid" can refer to both crosses between different populations within a single species (intraspecific hybrids) and crosses between different species (interspecific hybrids). The latter is often more challenging, as significant genetic differences between the two parental species can lead to various reproductive barriers, making it difficult for the hybrid offspring to produce viable offspring of their own.
Congenital hypothyroidism is a medical condition characterized by the partial or complete absence of thyroid hormone production in the baby's body at birth. The thyroid gland, which is located in the front of the neck, produces hormones that are essential for normal growth and development of the brain and body.
Congenital hypothyroidism can occur due to various reasons such as the absence or abnormal development of the thyroid gland, or a defect in the production or regulation of thyroid hormones. In some cases, it may be caused by genetic mutations that affect the development or function of the thyroid gland.
If left untreated, congenital hypothyroidism can lead to mental and physical retardation, growth problems, and other health issues. Therefore, it is important to diagnose and treat this condition as early as possible, usually within the first few weeks of life. Treatment typically involves replacing the missing thyroid hormones with synthetic medications, which are safe and effective when administered under a doctor's supervision.
Testicular diseases refer to a range of conditions that affect the testicles, the male reproductive organs located in the scrotum. These diseases can affect either one or both testicles and may cause pain, swelling, or impact fertility. Here are some examples of testicular diseases:
1. Testicular cancer: A malignant tumor that develops in the testicle. It is a relatively rare cancer but is highly treatable if detected early.
2. Testicular torsion: A surgical emergency that occurs when the spermatic cord, which supplies blood to the testicle, becomes twisted, cutting off the blood flow.
3. Epididymitis: An infection or inflammation of the epididymis, a coiled tube that stores and carries sperm from the testicle.
4. Orchitis: An infection or inflammation of the testicle itself. It can occur on its own or as a complication of mumps.
5. Hydrocele: A fluid-filled sac that forms around the testicle, causing swelling.
6. Varicocele: Enlarged veins in the scrotum that can cause pain and affect fertility.
7. Inguinal hernia: A condition where a portion of the intestine or fat protrudes through a weakened area in the abdominal wall, often appearing as a bulge in the groin or scrotum.
8. Testicular trauma: Injury to the testicle, which can result from accidents, sports injuries, or other causes.
9. Undescended testicles: A condition where one or both testicles fail to descend from the abdomen into the scrotum before birth.
It is essential for men to perform regular self-examinations to check for any unusual lumps, swelling, or pain in the testicles and seek medical attention if they notice any changes.
DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.
The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.
DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.
Oophoritis is a medical term that refers to the inflammation of one or both ovaries. It is often caused by an infection, which can be bacterial, viral, or fungal in nature. The infection can spread to the ovaries from other parts of the reproductive system, such as the fallopian tubes or the uterus.
Oophoritis can cause symptoms such as pelvic pain, abdominal cramping, irregular menstrual bleeding, and fever. In some cases, it may lead to complications such as infertility or chronic pelvic pain. Treatment typically involves antibiotics to clear the infection, as well as pain relief medications and anti-inflammatory drugs to manage symptoms.
It is important to note that oophoritis can be a serious condition, especially if left untreated. If you are experiencing any symptoms of oophoritis, it is important to seek medical attention promptly.
XX gonadal dysgenesis
Gonadal dysgenesis
List of OMIM disorder codes
Disorders of sex development
Follicle-stimulating hormone receptor
XY gonadal dysgenesis
XX male syndrome
List of MeSH codes (C13)
List of MeSH codes (C19)
List of MeSH codes (C12)
List of diseases (0-9)
List of MeSH codes (C16)
Sex chromosome anomalies
Androgen insensitivity syndrome
Tetrasomy X
History of intersex surgery
Trisomy X
Sexual differentiation in humans
True hermaphroditism
Albert de la Chapelle
Genetics of infertility
GT198
Denys-Drash syndrome
C2orf80
Sexual anomalies
Sex-determining region Y protein
XYY syndrome
Complete androgen insensitivity syndrome
Turner syndrome
Black Dahlia
XX gonadal dysgenesis - Wikipedia
MedlinePlus: Genetic Conditions: G
Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology
A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary
GARD Rare Disease Information
Case Study: Turner syndrome | GPonline
Orphanet: 46,XX ovotesticular difference of sex development
ENDOU | Cancer Genetics Web
3 Sex Begins in the Womb | Exploring the Biological Contributions to Human Health: Does Sex Matter? | The National Academies...
Disorders of Sexual Differentiation Program - Children's Hospital of Orange County
An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome. | Journal of...
Ambiguous Genitalia | Pediatrics Clerkship | The University of Chicago
Bio2Vec
HuGE Navigator|Genopedia|PHGKB
Bio2Vec
Defb20 Mouse Gene Details | defensin beta 20 | International Mouse Phenotyping Consortium
homeopathic treatment for Premature ovarian insufficiency in homeopathy, treatment of Premature ovarian insufficiency in Delhi,...
産婦人科学(産科) - 研究成果 - Keio University
Specific PHGKB|Rare Diseases PHGKB|PHGKB
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL
Frasier Syndrome (definition)
Chromosomal instability. Medical search
Disorders of Sex Development | Harrison's Principles of Internal Medicine, 20e | AccessMedicine | McGraw Hill Medical
Disorders of Sex Development | Harrison's Endocrinology, 4e | AccessBiomedical Science | McGraw Hill Medical
Decreased proportion of CD4-positive helper T cells (Concept Id: C5235140) - MedGen - NCBI
Disorders of Sex Development: Background, Pathophysiology, Etiology
MESOTHELIOMA, MALIGNANT; MESOM | MENDELIAN.CO
Aspectos comportamentais e do desenvolvimento psicossexual dos pacientes com distúrbios...
Partial gonadal dysgenesis4
- Complete or partial gonadal dysgenesis (e.g. (mhmedical.com)
- These were cases with 46, XX congenital adrenal hyperplasia, partial androgen insensitivity, mixed or partial gonadal dysgenesis, and micropenis where data about the assigned gender, childhood genital-normalizing surgery, and adult gender could be extracted. (e-urol-sci.com)
- Other types of X-Y translocations associated with anomalies of sex differentiation include Xp-Yq translocations, which result in a functional disomy of Xp sequences including the DSS locus and are associated with 46,XY complete or partial gonadal dysgenesis. (pasteur.fr)
- as partial gonadal dysgenesis. (nih.gov)
Karyotype13
- XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. (wikipedia.org)
- however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended. (wikipedia.org)
- The karyotype reveals XX chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). (wikipedia.org)
- A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. (orpha.net)
- A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. (bmj.com)
- A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. (reference.md)
- However, because of functioning normal ovarian tissue, most people experience breast development at puberty, and approximately two-thirds of those with a 46,XX peripheral karyotype menstruate. (medscape.com)
- is seminiferous tubule dysgenesis associated with the 47,XXY karyotype, in which an extra X chromosome is acquired through maternal or, to a lesser extent, paternal meiotic nondisjunction. (msdmanuals.com)
- chromosome pattern (46,XY karyotype), but they have external genitalia that do not look clearly male or clearly female or other abnormalities of the genitals and reproductive organs. (nih.gov)
- SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads. (biomedcentral.com)
- Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)
- They are characterized by the presence of dysgenetic testis and/or streak gonads, with persistence of the Müllerian ducts and inadequate virilization, and classically have a 45,X/46,XY karyotype. (biomedcentral.com)
- Sex development starts with the initial setting of either a 46,XX or a 46,XY karyotype. (e-apem.org)
Chromosome10
- In contrast XX gonadal dysgenesis has a normal female chromosome situation. (wikipedia.org)
- If the Y chromosome, SRY gene and TDF are absent (XX female), then the lack of testosterone and presence of maternal estrogens stimulate the development of female external genitalia. (uchicago.edu)
- The existence of patients with 46,XX testicular DSD, who have testicular tissue in the absence of an obvious Y chromosome or SRY genetic material, clearly requires other genetic explanations. (medscape.com)
- Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. (e-kjgm.org)
- Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. (pasteur.fr)
- Three classes of XX males have been defined on the basis of the extent of Y material transferred to the X chromosome. (pasteur.fr)
- Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
- The gender of a developing baby is determined at conception, when the embryo has either two XX chromosomes, or an X and a Y chromosome. (chkd.org)
- The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
- According to the Chicago classification (2006), DSDs can be classified into 3 categories: sex chromosome DSDs, which include Turner syndrome and Klinefelter syndrome, as well as 45,X/46,XY and 46,XX/46,XY variants. (e-apem.org)
Disorders11
- In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published proposed changes to the previously used nomenclature and definitions of disorders in which the development of chromosomal, gonadal, or phenotypic sex is atypical. (medscape.com)
- The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
- Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)
- Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
- Errors of sex determination and gonadal development, such as gonadal dysgenesis (46,XX or 46,XY) and testicular and ovotesticular disorders of sex development, represent rare forms of male hypogonadism. (msdmanuals.com)
- To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
- SRY -negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. (e-kjgm.org)
- We report three rare cases of SRY -negative 46,XX testicular disorders of sex development. (e-kjgm.org)
- These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY gene. (e-kjgm.org)
- DSDs range from common disorders like cryptorchidism to very rare and complex conditions like complete XX or XY sex reversal. (e-apem.org)
- 46,XY and 46,XX DSDs can be further subdivided into the subclasses of disorders of gonadal development, disorders of androgen biosynthesis and excess, and unclassified. (e-apem.org)
Reversal6
- Rarely, others include palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (caused by biallelic RSPO1 gene variants), SERKAL syndrome (recessive WNT4 variants). (orpha.net)
- 46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.org)
- Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
- Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)
- however, overtly ambiguous genitalia may occur in one in 4,500 live births, and complete XX or XY sex reversal with unequivocal male or female phenotype at birth is estimated to exist in one in 20,000 live births [ 2 ]. (e-apem.org)
- The presence of intermediate or atypical combinations of physical features that usually distinguish Female from Male due to congenital involving chromosomal, morphological, genital and/or gonadal anomalies, such as diversion from typical XX-female or XY-male presentations, e.g., sex reversal (XY female XX -male), genital ambiguity, or sex developmental differences. (ijcrr.com)
Phenotypic sex3
- The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination), and phenotypic sex (sex differentiation) (Fig. 383-1) . (mhmedical.com)
- Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. (mhmedical.com)
- Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)
Known as 461
- citation needed] Another type of XX gonadal dysgenesis is known as 46,XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid (eye disorder). (wikipedia.org)
Gonads5
- citation needed] The consequences to the girl with XX gonadal dysgenesis:[citation needed] Her gonads cannot make estrogen, so her breasts will not develop and her uterus will not grow and menstruate until she is given estrogen. (wikipedia.org)
- We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. (nih.gov)
- A disorder of sex development (DSD) occurs when there is incongruence between a child's external genitalia, gonads (ovaries or testes) and chromosomal sex (XX - female or XY - male). (uchicago.edu)
- In the XX newborn, gonads are not palpable, which classically leads to the diagnosis of female pseudohermaphroditism. (health.am)
- Perrault syndrome is a sex-influenced disorder that is characterized by progressive, sensorineural deafness coupled with ovarian dysgenesis or premature ovarian failure (streak gonads), amenorrhea, and infertility in females. (preventiongenetics.com)
Chromosomal sex1
- The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)
Ovarian3
- Ovarian ultrasonography can be useful in the workup of patients with primary ovarian insufficiency, as it will identify those women with multifollicular ovaries and suggest the diagnosis of either autoimmune oophoritis or 17-20 desmolase deficiency. (medscape.com)
- Definitive diagnosis is based on gonadal histology (testicular and ovarian tissue). (orpha.net)
- In the next period, called sex determination (lasting from approximately 6 to 8 weeks of gestation), the bipotent gonadal anlagen eventually develops into ovarian or testicular cells. (e-apem.org)
Gene1
- 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)
Testicular tissue2
- Müllerian duct structures typically develop on the gonadal side not containing testicular tissue. (medscape.com)
- Wolffian duct structures tend to be observed on the gonadal side containing functioning testicular tissue. (medscape.com)
Determines gonadal1
- Nuclear receptor subfamily 5 group A member 1 ( NR5A1, also known as SF-1 , AD4BP and FTZF1 ) is a key transcription factor that determines gonadal development and regulates coordinates endocrine functions [ 9 ]. (biomedcentral.com)
Weeks of gestat1
- Anatomical resources for either male or female development and variations are present in the early weeks of gestation ( Table 2 ) gonadal ridge, Wolffian (mesonephric) and Müllerian (paramesonephric) ducts, cloaca and subsequent urogenital sinus, genital tubercle and labioscrotal swellings. (pediatricurologybook.com)
Sensorineural1
- Some forms of XX gonadal dysgenesis occurs with sensorineural deafness. (wikipedia.org)
Variants1
- 12 ] described the first two NR5A1 variants in individuals with 46,XY DSD who presented primary adrenal insufficiency and complete gonadal dysgenesis. (biomedcentral.com)
Diagnosis6
- At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis. (wikipedia.org)
- A gonadal biopsy may ultimately be necessary for the diagnosis. (uchicago.edu)
- History, examinations, and assistant examinations were available for clinical diagnosis of 46,XY DSD. (biomedcentral.com)
- We implemented both approaches in parallel in the diagnosis of a Chinese adolescent with 46,XY DSD. (biomedcentral.com)
- According to the medical history, physical examinations, karyotyping, gonadotropin levels test, and ultrasound examinations, it was not difficult to obtain clinical diagnosis as 46,XY DSD. (biomedcentral.com)
- Diagnosis is by measurement of gonadal hormones (testosterone and/or estradiol), luteinizing hormone, and follicle-stimulating. (msdmanuals.com)
Androgen1
- A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)
Development7
- In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. (wikipedia.org)
- Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)
- SF-1 and WT-1 have influence over gonadal development and subsequent endocrine communication to the Wolffian (mesonephric-blue) and Müllerian (paramesonephric-orange) ducts. (pediatricurologybook.com)
- We described a novel NR5A1 variant and demonstrated its adverse effects on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. (biomedcentral.com)
- Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. (pasteur.fr)
- The development of a mammalian embryo into either female or male is primarily dependent on the sex chromosomal constitution, being XX and XY respectively. (biomedcentral.com)
- These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. (e-apem.org)
Humans1
- Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
Chromosomes2
Syndrome5
- The term "pure gonadal dysgenesis" (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. (wikipedia.org)
- Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome. (wikipedia.org)
- Turner syndrome is also sometimes called gonadal dysgenesis. (gponline.com)
- Cardiovascular complications can occur in around 20% of patients with Turner syndrome (see box). (gponline.com)
- Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.com)
Ovary1
- These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
Clinical1
- 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)
Male1
- An estimated 15% of couples meet this criterion and are considered infertile, with approximately 35% due to female factors alone, 30% due to male factors alone, 20% due to a combination of female and male factors, and 15% unexplained. (medscape.com)
Dysfunction1
- Subtler forms of gonadal dysfunction (e.g. (mhmedical.com)
Mosaic1
- Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic. (bmj.com)
Cases5
- citation needed] Familial cases of XX gonadal dysgenesis are on record. (wikipedia.org)
- A reanalysis of these cases shows them all to lack ZFY, but one 46,XX true hermaphrodite carries sequences next to the Y pseudoautosomal boundary. (nih.gov)
- Malignant gonadal tumors are rare (less than 3% of cases). (orpha.net)
- The cause of 46,XX ovotesticular DSD is not elucidated for the majority of cases. (orpha.net)
- In rare cases Yp-Xq translocations have been described in association with 46,XX maleness. (pasteur.fr)
Germ1
- Apparently either the germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia so that at the end of childhood only a streak gonad is present, unable to induce pubertal changes. (wikipedia.org)
Males1
- affected males are 46,XY and fertile. (preventiongenetics.com)
Structures1
- Recurring supersecondary structures characterized by 20 amino acids folding into two alpha helices connected by a non-helical "loop" segment. (lookformedical.com)
Failure1
- Gonadal failure is treated with estrogens and progesterone. (gponline.com)
Individuals1
- About 20% of affected individuals are diagnosed before 5 years of age. (orpha.net)