Androgen-Insensitivity Syndrome
Receptors, Androgen
Gonadal Dysgenesis
Androgens
Hypospadias
46, XY Disorders of Sex Development
Surgically-Created Structures
Testosterone
Pedigree
Feminization
Point Mutation
Mutation
Disorders of Sex Development
Phenotype
Pain Insensitivity, Congenital
Dihydrotestosterone
Gonadal Dysgenesis, 46,XY
Testosterone Congeners
Genitalia, Female
Ovary
Corpus Luteum
Physiology
Uterus
Chorionic Gonadotropin
Books
Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. (1/139)
OBJECTIVE: To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). DESIGN: Retrospective study of patients on a nationwide register of AIS. PATIENTS: Sixty one cases of AIS with androgen receptor (AR) dysfunction (abnormalities of the AR gene and/or abnormal AR binding) were divided into three age groups: infants, < 1 year old; children, 1-13 years old; and postpubertal, > 13 years old. MEASUREMENTS: Age, dose of human chorionic gonadotrophin (hCG) stimulation, pre-hCG and post-hCG serum testosterone values, serum DHT values, and serum LH and FSH values before and after LH releasing hormone (LHRH) stimulation. RESULTS: In 23 of 30 infants testosterone was within age related reference ranges; six were above this range. The median testosterone rise following variable dosage of hCG was 9.5 times the basal value. The increment was not related to the hCG dose, age, or basal concentration of testosterone. The median basal and stimulated testosterone:DHT ratios were 2.5 and 6.1, respectively. The median increment in DHT was 2.2-fold. Seventeen of 18 FSH and 11 of 19 LH measurements were within age related ranges in infants; in seven patients LH values were above the range. LHRH stimulation performed in 39 patients showed an exaggerated LH in all age groups. The FSH response was not exaggerated in children. CONCLUSION: Although a positive hCG test excludes biosynthetic defects of testosterone, an inadequate response does not exclude AIS. Basal LH and testosterone may not be raised during early infancy. An LHRH stimulation test might be useful for evaluating cases of suspected AIS presenting in mid-childhood. (+info)Direct androgenic regulation of calcitonin gene-related peptide expression in motoneurons of rats with mosaic androgen insensitivity. (2/139)
The spinal nucleus of the bulbocavernosus (SNB) and its target muscles, bulbocavernosus and levator ani (BC/LA), form a sexually dimorphic neuromuscular circuit whose development and maintenance are androgen-dependent. The mechanisms whereby androgen regulates gene expression in the SNB of adult rats are largely unknown, although a retrograde influence from the BC/LA muscles has been suggested to underlie the suppression of calcitonin gene-related peptide (CGRP) expression observed in SNB motoneurons after systemic androgen treatment. A mosaic paradigm was used to determine the site of action of androgen in the regulation of CGRP expression in SNB motoneurons. As a consequence of random X chromosome inactivation, androgenized female rats heterozygous for the tfm androgen receptor (AR) mutation (XwtXtfm-mosaics) express a mosaic of androgen-sensitive and androgen-insensitive motoneurons in the SNB, whereas the BC/LA target musculature appears to be uniformly sensitive to androgens. In adult mosaics, testosterone administration resulted in a reduction in the proportion of androgen-sensitive cells expressing CGRP, whereas no such reduction was observed in the androgen-insensitive population, indicating that neuronal AR plays an essential role in the neuromuscular regulation of CGRP expression in these motoneurons. This provides the first in vivo demonstration of AR regulation of gene expression unambiguously localized to a neuronal population. (+info)Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. (3/139)
We analyzed the androgen receptor (AR) gene in five Japanese patients diagnosed with androgen insensitivity syndrome (AIS). All AR genes from the five patients had single-nucleotide substitutions, which introduced a premature termination codon in three patients (Gln640, Arg752, and Gln640 and Trp751), and a single amino acid substitution in two patients (Arg831 to Gln, and Leu812 to Phe). All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS. Pubic skin fibroblasts from four of the five patients did not show detectable androgen binding. These data on mutations that have not been reported previously, provide valuable information for the further characterization of structural and functional relationships in the steroid-binding domain of the AR protein. (+info)Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms. (4/139)
The small nuclear RING finger protein SNURF is not only a coactivator in steroid receptor-dependent transcription but also activates transcription from steroid-independent promoters. In this work, we show that SNURF, via the RING finger domain, enhances protein binding to Sp1 elements/GC boxes and interacts and cooperates with Sp1 in transcriptional activation. The activation of androgen receptor (AR) function requires regions other than the RING finger of SNURF, and SNURF does not influence binding of AR to cognate DNA elements. The zinc finger region (ZFR) together with the hinge region of AR are sufficient for contacting SNURF. The nuclear localization signal in the boundary between ZFR and the hinge region participates in the association of AR with SNURF, and a receptor mutant lacking the C-terminal part of the bipartite nuclear localization signal shows attenuated response to coexpressed SNURF. Some AR ZFR point mutations observed in patients with partial androgen insensitivity syndrome or male breast cancer impair the interaction of AR with SNURF and also render AR refractory to the transcription-activating effect of SNURF. Collectively, SNURF modulates the transcriptional activities of androgen receptor and Sp1 via different domains, and it may act as a functional link between steroid- and Sp1-regulated transcription. (+info)Pituitary-gonadal axis in male undermasculinisation. (5/139)
AIMS: To study the value of assessing serum concentrations of luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in patients with male undermasculinisation not caused by androgen insensitivity. METHODS: A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5alpha-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). RESULTS: A human chorionic gonadotropin (hCG) stimulation test was performed in 66 of 185 children with male undermasculinisation. In 41 of 66 patients the dose of hCG was either 1000 U or 1500 U on three consecutive days. The rise in testosterone was related to basal serum testosterone and was not significantly different between the two groups. Testosterone:DHT ratio in patients with 5alpha-reductase deficiency was 12.5-72.8. During early infancy, baseline concentrations of LH and FSH were often within normal reference ranges. In patients with abnormal testes, median pre-LHRH (luteinising hormone releasing hormone) concentrations of LH and FSH were 2 and 6.4 U/l, respectively, and post-LHRH concentrations were 21 and 28 U/l. An exaggerated response to LHRH stimulation was observed during mid-childhood in children where the diagnosis was not clear and in all children with abnormal testes. CONCLUSIONS: The testosterone:DHT ratio following hCG stimulation is more reliable than the basal testosterone:DHT ratio in identifying 5alpha-reductase deficiency. During infancy, the LHRH stimulation test may be more reliable in identifying cases of male undermasculinisation due to abnormal testes than basal gonadotrophin concentrations. (+info)Tissue interaction in androgen response of embryonic mammary rudiment of mouse: identification of target tissue for testosterone. (6/139)
In the androgen response of the embryonic mammary rudiment of the mouse, both gland epithelium and surrounding mesenchyme are visibly involved. The question whether this is due to a direct action of testosterone on both tissues was investigated in experimental combination of mammary epithelium and mammary mesenchyme, derived either from normal or from androgen-insensitive (XTfm/Y) embryos. A typical androgen response occurred in combinations of androgen-insensitive epithelium with normal mesenchyme, whereas all combinations of normal epithelium with androgen-insensitive mesenchyme failed to respond. It is therefore concluded that only the mesenchyme of the mammary rudiment is the target tissue for testosterone, and that all changes in the gland epithelium, including its necrosis, are secondarily caused by testosterone-activated mesenchymal cells. (+info)Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules. (7/139)
Testes from adult and prepubertal mice lacking the Desert hedgehog (DHH:) gene were examined in order to describe further the role of Dhh in spermatogenesis because, in a previous report, DHH:-null male mice were shown to be sterile. Dhh is a signaling molecule expressed by Sertoli cells. Its receptor, patched (Ptc), has been previously localized to Leydig cells and is herein described as being localized also to peritubular cells. Two phenotypes of the mice were observed: masculinized (7.5% of DHH:-null males) and feminized (92.5%), both of which displayed abnormal peritubular tissue and severely restricted spermatogenesis. Testes from adult feminized animals lacked adult-type Leydig cells and displayed numerous undifferentiated fibroblastic cells in the interstitium that produced abundant collagen. The basal lamina, normally present between the myoid cells and Sertoli cells, was focally absent. We speculate that the abnormal basal lamina contributed to other characteristics, such as extracordal gonocytes, apolar Sertoli cells, and anastomotic seminiferous tubules. The two DHH:-null phenotypes described have common peritubular cell defects that may be indicative of the essential role of peritubular cells in development of tubular morphology, the differentiation of Leydig cells, and the ultimate support of spermatogenesis. (+info)Neuronal size in the spinal nucleus of the bulbocavernosus: direct modulation by androgen in rats with mosaic androgen insensitivity. (8/139)
The motoneurons of the spinal nucleus of the bulbocavernosus (SNB) and its target muscles, the bulbocavernosus and levator ani, form a sexually dimorphic circuit that is developmentally dependent on androgen exposure and exhibits numerous structural and functional changes in response to androgen exposure in adulthood. Castration of male adult rats causes shrinkage of SNB somata, and testosterone replacement reverses this effect, but the site at which androgen is acting to cause this change is undetermined. We exploited the X-chromosome residency of the androgen receptor (AR) gene to generate androgenized female rats that were heterozygous for the testicular feminization mutant (tfm) AR mutation and that, as a consequence of ontogenetic random X-inactivation, expressed a blend of androgen-sensitive wild-type cells and tfm-affected androgen-insensitive cells in the SNB. Chronic testosterone treatment of adult mosaics increased soma sizes only in androgen-competent wild-type SNB cells. The size of tfm-affected SNB somata in the same animals did not differ from the size of either the wild-type or tfm-affected SNB neurons in control mosaics that did not receive androgen treatment in adulthood. Because the muscle targets of the SNB are known to be uniformly androgen-sensitive in tfm mosaics, this mosaic analysis provides unambiguous evidence that androgenic effects on motoneuron soma size are mediated locally in the SNB. It is possible that the neuronal AR plays a permissive role in coordinating the actions of androgen. (+info)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.
Androgen receptors (ARs) are a type of nuclear receptor protein that are expressed in various tissues throughout the body. They play a critical role in the development and maintenance of male sexual characteristics and reproductive function. ARs are activated by binding to androgens, which are steroid hormones such as testosterone and dihydrotestosterone (DHT). Once activated, ARs function as transcription factors that regulate gene expression, ultimately leading to various cellular responses.
In the context of medical definitions, androgen receptors can be defined as follows:
Androgen receptors are a type of nuclear receptor protein that bind to androgens, such as testosterone and dihydrotestosterone, and mediate their effects on gene expression in various tissues. They play critical roles in the development and maintenance of male sexual characteristics and reproductive function, and are involved in the pathogenesis of several medical conditions, including prostate cancer, benign prostatic hyperplasia, and androgen deficiency syndromes.
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.
Androgens are a class of hormones that are primarily responsible for the development and maintenance of male sexual characteristics and reproductive function. Testosterone is the most well-known androgen, but other androgens include dehydroepiandrosterone (DHEA), androstenedione, and dihydrotestosterone (DHT).
Androgens are produced primarily by the testes in men and the ovaries in women, although small amounts are also produced by the adrenal glands in both sexes. They play a critical role in the development of male secondary sexual characteristics during puberty, such as the growth of facial hair, deepening of the voice, and increased muscle mass.
In addition to their role in sexual development and function, androgens also have important effects on bone density, mood, and cognitive function. Abnormal levels of androgens can contribute to a variety of medical conditions, including infertility, erectile dysfunction, acne, hirsutism (excessive hair growth), and prostate cancer.
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.
'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.
"Surgically-created structures" is not a standard medical term, but I can provide a general explanation of surgical procedures that create or modify anatomical structures.
Surgical procedures may involve creating new structures or modifying existing ones to achieve specific therapeutic goals. These modifications can be temporary or permanent and are often designed to improve organ function, restore physiological processes, or correct congenital abnormalities. Here are some examples of surgically-created structures:
1. Anastomosis: The connection of two hollow organs (e.g., intestines, blood vessels) or the reconnection of severed tubular structures after resection (removal) of damaged or diseased segments. Common types include end-to-end, side-to-side, and end-to-side anastomoses.
2. Stoma: An artificial opening created between a hollow organ (e.g., intestine, bladder) and the body surface to allow for waste elimination or drainage. Examples include colostomy, ileostomy, and urostomy.
3. Fistula: An abnormal connection or passageway between two organs, vessels, or the skin and an organ. Surgical creation of a fistula can be intentional (e.g., to divert intestinal contents in the management of complex wounds) or unintentional (e.g., as a complication).
4. Shunts: Artificial channels created to redirect fluid flow between body compartments, cavities, or vessels. Examples include peritoneal dialysis catheters, ventriculoperitoneal shunts for hydrocephalus management, and portosystemic shunts in the treatment of portal hypertension.
5. Flaps: A surgical technique used to relocate tissue from one part of the body to another while maintaining its blood supply. Flaps can be created using skin, muscle, fascia, or bone and are used for various purposes, such as wound closure, soft tissue reconstruction, or coverage of vital structures.
6. Grafts: Transplantation of tissue from one site to another or from a donor to a recipient. Common types include autografts (from the same individual), allografts (from another individual of the same species), and xenografts (from a different species). Examples include skin grafts, heart valve replacements, and corneal transplants.
7. Implants: Artificial devices or materials placed within the body to replace or augment function, support structures, or deliver medication. Examples include pacemakers, cochlear implants, orthopedic prostheses, and drug-eluting stents.
8. Stomas: Surgically created openings on the body surface that allow for the passage of bodily fluids or waste. Common examples include colostomies, ileostomies, and gastrostomies.
Testosterone is a steroid hormone that belongs to androsten class of hormones. It is primarily secreted by the Leydig cells in the testes of males and, to a lesser extent, by the ovaries and adrenal glands in females. Testosterone is the main male sex hormone and anabolic steroid. It plays a key role in the development of masculine characteristics, such as body hair and muscle mass, and contributes to bone density, fat distribution, red cell production, and sex drive. In females, testosterone contributes to sexual desire and bone health. Testosterone is synthesized from cholesterol and its production is regulated by luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
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.
Feminization is a process or condition in which typically male characteristics are diminished or absent, and female characteristics become more prominent. This term is often used in the context of transgender health to describe hormone therapy that helps individuals align their physical appearance with their gender identity. The goal of feminizing hormone therapy is to promote the development of secondary sexual characteristics such as breast development, softer skin, reduced muscle mass and body hair, and fat redistribution to create a more typically female body shape. It's important to note that every individual's experience with feminization is unique, and the specific changes experienced may vary depending on factors such as age, genetics, and the duration of hormone therapy.
A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.
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.
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.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
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.
Congenital pain insensitivity, also known as congenital analgesia, is a rare genetic disorder characterized by the absence of ability to feel pain due to the malfunction or lack of functioning nociceptors - the nerve cells that transmit painful stimuli to the brain. It is typically caused by mutations in the SCN9A gene, which encodes a sodium channel necessary for the function of nociceptors.
Individuals with congenital pain insensitivity may not feel any pain from injuries or other sources of harm, and as a result, they are at risk for serious injury or even death due to lack of protective responses to painful stimuli. They may also have an increased risk of developing recurrent infections and self-mutilation behaviors.
It is important to note that while these individuals do not feel pain, they can still experience other sensory inputs such as touch, temperature, and pressure. Congenital pain insensitivity is a complex medical condition that requires careful management and monitoring by healthcare professionals.
Dihydrotestosterone (DHT) is a sex hormone and androgen that plays a critical role in the development and maintenance of male characteristics, such as facial hair, deep voice, and muscle mass. It is synthesized from testosterone through the action of the enzyme 5-alpha reductase. DHT is essential for the normal development of the male genitalia during fetal development and for the maturation of the sexual organs at puberty.
In addition to its role in sexual development, DHT also contributes to the growth of hair follicles, the health of the prostate gland, and the maintenance of bone density. However, an excess of DHT has been linked to certain medical conditions, such as benign prostatic hyperplasia (BPH) and androgenetic alopecia (male pattern baldness).
DHT exerts its effects by binding to androgen receptors in various tissues throughout the body. Once bound, DHT triggers a series of cellular responses that regulate gene expression and influence the growth and differentiation of cells. In some cases, these responses can lead to unwanted side effects, such as hair loss or prostate enlargement.
Medications that block the action of 5-alpha reductase, such as finasteride and dutasteride, are sometimes used to treat conditions associated with excess DHT production. These drugs work by reducing the amount of DHT available to bind to androgen receptors, thereby alleviating symptoms and slowing disease progression.
In summary, dihydrotestosterone is a potent sex hormone that plays a critical role in male sexual development and function. While it is essential for normal growth and development, an excess of DHT has been linked to certain medical conditions, such as BPH and androgenetic alopecia. Medications that block the action of 5-alpha reductase are sometimes used to treat these conditions by reducing the amount of DHT available to bind to androgen receptors.
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.
Testosterone congeners refer to structural analogs or derivatives of testosterone, which is the primary male sex hormone and an androgen. These are compounds that have a similar chemical structure to testosterone and may exhibit similar biological activities. Testosterone congeners can be naturally occurring or synthetic and include a variety of compounds such as androgens, anabolic steroids, and estrogens. They can be used in medical treatments, but some are also misused for performance enhancement or other non-medical purposes, which can lead to various health risks and side effects.
Female genitalia refer to the reproductive and sexual organs located in the female pelvic region. They are primarily involved in reproduction, menstruation, and sexual activity. The external female genitalia, also known as the vulva, include the mons pubis, labia majora, labia minora, clitoris, and the external openings of the urethra and vagina. The internal female genitalia consist of the vagina, cervix, uterus, fallopian tubes, and ovaries. These structures work together to facilitate menstruation, fertilization, pregnancy, and childbirth.
An ovary is a part of the female reproductive system in which ova or eggs are produced through the process of oogenesis. They are a pair of solid, almond-shaped structures located one on each side of the uterus within the pelvic cavity. Each ovary measures about 3 to 5 centimeters in length and weighs around 14 grams.
The ovaries have two main functions: endocrine (hormonal) function and reproductive function. They produce and release eggs (ovulation) responsible for potential fertilization and development of an embryo/fetus during pregnancy. Additionally, they are essential in the production of female sex hormones, primarily estrogen and progesterone, which regulate menstrual cycles, sexual development, and reproduction.
During each menstrual cycle, a mature egg is released from one of the ovaries into the fallopian tube, where it may be fertilized by sperm. If not fertilized, the egg, along with the uterine lining, will be shed, leading to menstruation.
The corpus luteum is a temporary endocrine structure that forms in the ovary after an oocyte (egg) has been released from a follicle during ovulation. It's formed by the remaining cells of the ruptured follicle, which transform into large, hormone-secreting cells.
The primary function of the corpus luteum is to produce progesterone and, to a lesser extent, estrogen during the menstrual cycle or pregnancy. Progesterone plays a crucial role in preparing the uterus for potential implantation of a fertilized egg and maintaining the early stages of pregnancy. If pregnancy does not occur, the corpus luteum will typically degenerate and stop producing hormones after approximately 10-14 days, leading to menstruation.
However, if pregnancy occurs, the developing embryo starts to produce human chorionic gonadotropin (hCG), which signals the corpus luteum to continue secreting progesterone and estrogen until the placenta takes over hormonal production, usually around the end of the first trimester.
Physiology is the scientific study of the normal functions and mechanisms of living organisms, including all of their biological systems, organs, cells, and biomolecules. It focuses on how various bodily functions are regulated, coordinated, and integrated to maintain a healthy state in an organism. This field encompasses a wide range of areas such as cellular physiology, neurophysiology, cardiovascular physiology, respiratory physiology, renal physiology, endocrine physiology, reproductive physiology, and exercise physiology, among others. Physiologists use a combination of experimental and theoretical approaches to understand the principles underlying normal biological function and to investigate how these functions are altered in various disease states.
The uterus, also known as the womb, is a hollow, muscular organ located in the female pelvic cavity, between the bladder and the rectum. It has a thick, middle layer called the myometrium, which is composed of smooth muscle tissue, and an inner lining called the endometrium, which provides a nurturing environment for the fertilized egg to develop into a fetus during pregnancy.
The uterus is where the baby grows and develops until it is ready for birth through the cervix, which is the lower, narrow part of the uterus that opens into the vagina. The uterus plays a critical role in the menstrual cycle as well, by shedding its lining each month if pregnancy does not occur.
Chorionic Gonadotropin (hCG) is a hormone that is produced during pregnancy. It is produced by the placenta after implantation of the fertilized egg in the uterus. The main function of hCG is to prevent the disintegration of the corpus luteum, which is a temporary endocrine structure that forms in the ovary after ovulation and produces progesterone during early pregnancy. Progesterone is essential for maintaining the lining of the uterus and supporting the pregnancy.
hCG can be detected in the blood or urine as early as 10 days after conception, and its levels continue to rise throughout the first trimester of pregnancy. In addition to its role in maintaining pregnancy, hCG is also used as a clinical marker for pregnancy and to monitor certain medical conditions such as gestational trophoblastic diseases.
I apologize for any confusion, but "books" is a general term that refers to bound sets of pages that are printed or written with text, illustrations, or signs, and are meant to be read, studied, or consulted. It does not have a specific medical definition. If you're looking for information about a specific medical term or concept, please let me know and I'd be happy to help!
Androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Complete androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Estrogen (medication)
X-linked recessive inheritance
Sex-determining region Y protein
Katharine Woolley
Androgen receptor
Eden Atwood
List of OMIM disorder codes
Tennessee Walking Horse
Intersex
Masculinizing hormone therapy
Phoebe Hart
Timeline of intersex history
Intersex civil society organizations
Intersex rights in the United Kingdom
Bonnie Hart
LGBT rights in South Australia
LGBT rights in Victoria
Legal recognition of intersex people
Human rights in Australia
Legal recognition of non-binary gender
Intersex Human Rights Australia
Intersex Peer Support Australia
Intersex Aotearoa
Discrimination against intersex people
Intersex human rights
LGBT rights in Australia
Androgen insensitivity syndrome - Wikipedia
Androgen insensitivity syndrome: MedlinePlus Genetics
Androgen Insensitivity Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome
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Complete Androgen Insensitivity Syndrome and Literature Review
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CAIS3
- This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. (medscape.com)
- Objective: To report the rare case of a patient with Complete Androgen Insensitivity Syndrome (CAIS) with Klinefelter Syndrome (KS) (47, XXY) presenting a Sertoli/Leydig cell tumor discovered during the gonadectomy. (remedypublications.com)
- The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. (aku.edu)
Testosterone10
- Syndrome has been linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq11-12 leading to the insensitivity of the receptor to testosterone. (aku.edu)
- Testosterone for Dry Eye Syndrome by Jeffrey Dach MD Mrs. B was 58 years old with typical menopausal symptoms of night sweats and hot flashes, and came to see me because of dry itchy, red eyes. (jeffreydachmd.com)
- This is called androgen insensitivity syndrome because male babies don't respond to testosterone (androgens). (chkd.org)
- The receptors in the body are unresponsive to androgens (testosterone). (justaaa.com)
- AIMS To study the value of assessing serum concentrations of luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in patients with male undermasculinisation not caused by androgen insensitivity. (bmj.com)
- METHODS A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5α-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). (bmj.com)
- Diagnostic schemata recommend karyotype, pelvic ultrasound scan, testosterone, and dihydrotestosterone (DHT) concentrations with human chorionic gonadotropin (hCG) stimulation, gonadotrophin concentrations, and androgen receptor binding in genital skin fibroblasts. (bmj.com)
- In the absence of aromatase, androgens cannot be converted to estrone, estradiol or estriol, and large quantities of androstenedione and testosterone are transferred to the maternal and fetal circulation, resulting in masculinization of the urogenital sinus and external genitalia of the female fetus. (health.am)
- Adrenal androgens undergo peripheral conversion to testosterone and dihydrotestosterone, and steroid precursors produce specific findings depending upon the exact enzyme deficiency. (health.am)
- Other intersex individuals may have genetically inherited chromosomal abnormalities such as congenital adrenal hyperplasia, which may result in masculinization of the genitals in people born with XX chromosomes, or androgen insensitivity syndrome, when the body doesn't respond to testosterone and a person has XY chromosomes and feminized genitalia. (mentalfloss.com)
Chromosomes4
- About two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers who carry an altered copy of the AR gene on one of their two X chromosomes. (medlineplus.gov)
- Instead of having two X chromosomes like a girl, she has an X and a Y like a boy-but because her body wouldn't react to the hormones, or androgens, that would have made her a boy, her body developed as a girl. (oprah.com)
- Turner Syndrome In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. (msdmanuals.com)
- Klinefelter Syndrome (47,XXY) Klinefelter syndrome is the presence of two or more X chromosomes plus one Y, resulting in a phenotypic male. (msdmanuals.com)
Partial12
- The condition results in the partial or complete inability of cells to respond to androgens. (wikipedia.org)
- mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikipedia.org)
- The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. (medlineplus.gov)
- People with partial androgen insensitivity (also called Reifenstein syndrome) can have genitalia that look typically female, genitalia that have both male and female characteristics, or genitalia that look typically male. (medlineplus.gov)
- Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. (medlineplus.gov)
- Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)
- It detects upwards of 95% of the mutations for complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. (medscape.com)
- While the genotypes causing complete androgen insensitivity syndrome are fairly consistent in phenotypic presentation, the genotype/phenotype relationships for the mutations causing partial androgen insensitivity syndrome remain unclear. (medscape.com)
- Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders characterized by a typical perineoscrotal hypospadias/micropenis phenotype, and a normal androgen-producing testis. (nih.gov)
- Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. (bvsalud.org)
- She was diagnosed as 46,XY Disorder of Sexual Development with partial androgen insensitivity . (bvsalud.org)
- Congenital adrenal hyperplasia (CAH), partial androgen insensitivity syndrome, hypospadias, epispadias, bladder and cloacal exstrophy, Klinefelter syndrome, enzyme insufficiencies like 5-alpha reductase or 17-beta ketosteroid, and MRKH, CHARGE, and other syndromes all may have ambiguous genitalia as part of their presentation. (heainfo.org)
Congenital3
- There are many examples such as Klinefelter Syndrome, Androgen Insensitivity Syndrome, and Congenital Adrenal Hyperplasia. (unomaha.edu)
- Gender controversies are often caused by Congenital Adrenal Hyperplasia (CAH) when females have male physical characteristics or Androgen Insensitivity Syndrome (AIS), when someone is genetically male but their genitals may appear to be female. (hurriyetdailynews.com)
- Adetailedhistorywastakenand hadenlargedclitorisand1(7.1%)had cally.Althoughhormonal,genetic,mo- physicalexaminationandscreeningfor hypoplasticclitorisandvagina(Fraser lecularandradiographicinvestigations pituitaryhormones(thyroidstimulat- syndrome);6patientshadlabialfusion areneededtodeterminetheetiology, inghormone,adrenocorticotropichor- (42.9%)(Table1).Nogonadswere physicalexaminationremainsakeyfor mone(ACTH)andgonadotropins) palpableinanyofthem.Congenital diagnosis[ 2 ],particularlycarefulpalpa- were conducted. (who.int)
Mutations5
- no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (wikipedia.org)
- Mutations in the AR gene cause androgen insensitivity syndrome. (medlineplus.gov)
- Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. (medlineplus.gov)
- Various mutations in the androgen receptor (AR) are known to cause PAIS. (nih.gov)
- It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. (bvsalud.org)
Gene11
- The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). (wikipedia.org)
- The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). (wikipedia.org)
- This gene provides instructions for making a protein called an androgen receptor. (medlineplus.gov)
- Mutation analysis of the androgen receptor gene is now commercially available. (medscape.com)
- The basic etiology of androgen insensitivity syndrome is a loss-of-function mutation in the androgen receptor ( AR ) gene. (medscape.com)
- In Kennedy disease (spinal and bulbar muscular atrophy [SBMA]), a motor neuron disease caused by a CAG expansion in the AR gene, androgen insensitivity appears later in life, with postpubertal gynecomastia being the most common sign. (medscape.com)
- Androgen receptor gene sequencing was performed in 111 patients. (nih.gov)
- Mothers who carry the gene have a 1 in 2 chance of having a son with the syndrome. (chkd.org)
- Marfan's syndrome is associated with a mutation of the FBN1 gene. (healthline.com)
- 4 However, most cases of male undermasculinisation do not have molecular abnormalities in the androgen receptor gene or abnormalities in androgen receptor binding, and therefore remain undiagnosed. (bmj.com)
- [ 18 ] In addition, an association between androgenetic alopecia and chromosome 20pll and the androgen-receptor gene has been reported. (medscape.com)
Deficiency3
- The two primary causes of male pseudohermaphroditism are androgen insensitivity syndrome and 5-alpha reductase deficiency. (chkd.org)
- Recognised causes of male undermasculinisation include gonadotrophin deficiency or resistance as well as a defect in androgen biosynthesis or action. (bmj.com)
- Female pseudohermaphroditism due to placental aromatase deficiency, which has recently been reported by several investigators, illustrates the critical role of placental aromatization in protecting the fetus from excess androgen exposure. (health.am)
Mild2
- People with mild androgen insensitivity are born with male sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty. (medlineplus.gov)
- Mild androgen insensitivity is much less common. (medlineplus.gov)
Hormones2
- Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female external sex characteristics or signs of both male and female sexual development. (medlineplus.gov)
- Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. (medscape.com)
Puberty2
- Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. (medlineplus.gov)
- Androgen is necessary for progression of androgenetic alopecia, as it is not found in males castrated prior to puberty. (medscape.com)
Testes1
- In surgery doctors found testes, and she was diagnosed with androgen insensitivity syndrome. (oprah.com)
Genetically male1
- Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male. (medlineplus.gov)
Receptors1
- Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. (medlineplus.gov)
Ambiguous genitalia1
- CAH is the most frequent cause of androgen excess and ambiguous genitalia in the female newborn and the various forms of CAH are due to defects in the biosynthesis of cortisol, with the subsequent excessive ACTH production leading to an accumulation of adrenal androgens and steroid precursors. (health.am)
Karyotype1
- In patients with abnormal karyotype ( n = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. (who.int)
Defect1
- A defect in the placental conversion of androgens to estrogens causes virilization in female offspring. (health.am)
Fetal2
Testicular1
- Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)
Induce1
- Any maternal source of elevated androgens can induce virilization in the female fetus. (health.am)
Genes1
- Cultural issues, other modifying genes and response to androgen trials might be influencing factors. (nih.gov)
Complete6
- Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. (medlineplus.gov)
- People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. (medlineplus.gov)
- Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (medscape.com)
- This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. (bvsalud.org)
- We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. (bvsalud.org)
- Interestingly, female androgenetic alopecia has been reported in a patient with complete androgen insensitivity syndrome. (medscape.com)
Virilization1
- A discrepancy between marked virilization in the mother and a minimal androgen effect in female offspring indicates placental aromatase activity, which converts androgens to estrogens, or androgen metabolism, which thus becomes less active. (health.am)
Patient1
- Medical care for a patient with androgen insensitivity syndrome (AIS) has 2 aspects: hormone replacement therapy (HRT) and psychological support. (medscape.com)
Genital skin1
- Androgen binding was analysed in fibroblasts obtained from genital skin biopsies and mutational analysis of the AR was performed on genomic DNA extracted from peripheral blood. (nih.gov)
Abnormal1
- In both cases, investigation of abnormal androgen production by the mother must be performed immediately after delivery. (health.am)
Characteristics1
- Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male. (medlineplus.gov)
Hormonal2
- Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. (wikipedia.org)
- The hormonal management of patients with androgen insensitivity can be challenging. (bvsalud.org)
Excess1
- Management of excessive androgens in the female fetus is somewhat difficult and will differ, for example, if there is a family history of female pseudohermaphroditism or if androgen excess is suspected from ultrasonography. (health.am)
Disorder1
- Recent publications claim there may be 60 different syndromes that can lead to a disorder of sex development (DSD). (heainfo.org)
Marfan's1
- Marfan's syndrome involves the connective tissue, which provides strength and form to the body's structures. (healthline.com)
Maternal2
Cases1
- We have recently reported the results of these investigations in cases of confirmed androgen insensitivity syndrome (AIS). (bmj.com)