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Gonadal Agenesis
Gonadal agenesis is a rare condition where an individual lacks both gonads. If the karyotype is 46,XY and the individual otherwise has a male phenotype, it is called anorchia; this occurs in one of 20,000 male births. The corresponding condition in an individual with a female phenotype and 46,XX phenotype is called bilateral ovarian agenesis. However, gonadal agenesis is more common in people with an 46,XY karyotype. Absence of both ovaries is much less common than absence of one ovary. Bilateral ovarian agenesis has also been reported to co-occur with MRKH syndrome and Cantú syndrome. See also * Gonadal dysgenesis * Hypogonadism Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low est ... References Congenital disorders of endocrine system Congenital disorders of genital organs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonads
A gonad, sex gland, or reproductive gland is a mixed gland that produces the gametes and sex hormones of an organism. Female reproductive cells are egg cells, and male reproductive cells are sperm. The male gonad, the testicle, produces sperm in the form of spermatozoa. The female gonad, the ovary, produces egg cells. Both of these gametes are haploid cells. Some hermaphroditic animals have a type of gonad called an ovotestis. Evolution It is hard to find a common origin for gonads, but gonads most likely evolved independently several times. Regulation The gonads are controlled by luteinizing hormone and follicle-stimulating hormone, produced and secreted by gonadotropes or gonadotrophins in the anterior pituitary gland. This secretion is regulated by gonadotropin-releasing hormone produced in the hypothalamus. Development Gonads start developing as a common primordium (an organ in the earliest stage of development), in the form of genital ridges, whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
46,XY
Intersex people are individuals born with any of several sex characteristics including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies". Sex assignment at birth usually aligns with a child's anatomical sex and phenotype. The number of births with ambiguous genitals is in the range of 1:2000–1:4500 (0.022%–0.05%). Other conditions involve atypical chromosomes, gonads, or hormones. Some persons may be assigned and raised as a girl or boy but then identify with another gender later in life, while most continue to identify with their assigned sex. The number of births where the baby is intersex has been reported differently depending on who reports and which definition of intersex is used. Anne Fausto-Sterling and her co-authors suggest that the prevalence of "nondimorphic sexual development" might be as high as 1.7%. A study published ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
46,XX
A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Unilateral Ovarian Agenesis
Unilateral ovarian agenesis, also known as unilateral ovarian absence (UOA), is a rare condition in an individual has one ovary instead of two not explained by previous ovariectomy. Possible causes include torsion or vascular obstruction leading to loss of one ovary, and true agenesis where the ovary never formed during development. It is much more common than having no functional ovaries ( XX gonadal dysgenesis). Based on two cases reported at a Malaysian institution that performed 22,483 gynecological and obstetric surgeries, the prevalence has been estimated as 1 in 11,241. A 2023 review suggests that this is likely an underestimate since UOA is often asymptomatic and reported as an incidental finding Incidental medical findings are previously undiagnosed medical or psychiatric conditions that are discovered unintentionally and during evaluation for a medical or psychiatric condition. Such findings may occur in a variety of settings, including ro ... in laparoscopic surgeries. Fe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cantú Syndrome
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.Initial posting 2014 Less than 50 cases have been described in the literature; they are associated with a mutation in the ''ABCC9''-gene that codes for the ABCC9-protein. Signs and symptoms The main features of this condition are hypertrichosis, osteochondrodysplasia, and cardiomegaly. There is also a characteristic facies. Other features include patent ductus arteriosus, congenital hypertrophy of the left ventricle, and pericardial effusions. Neurodevelopmental outcome appears normal, but obsessive traits and anxiety have been reported. It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding, and additional possible associations include lymphoedema and heterochromia iridis. Cause Cantú syndrome apparently is inherited in an autosomal dominant fashion and appears to be affected by the ''ABCC9'' gene. ABCC9 gene provides ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonadal Dysgenesis
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the atypical development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics. Gonadal development is a genetically controlled process by the chromosomal sex ( XX or XY) which directs the formation of the gonad (ovary or testis). Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes. This results in the appropriate phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). Gon ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypogonadism
Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms in both males and females. Hypogonadism, commonly referred to by the symptom "low testosterone" or "Low T", can also decrease other hormones secreted by the gonads including progesterone, DHEA, anti-Müllerian hormone, activin, and inhibin. Sperm development (spermatogenesis) and release of the egg from the ovaries (ovulation) may be impaired by hypogonadism, which, depending on the degree of severity, may result in partial or complete infertility. In January 2020, the American College of Physicians issued clinical guidelines for testosterone treatment in adult men with age-related low levels of testosterone. The guidelines are sup ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders Of Endocrine System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
