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Anorchism
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 karyotype 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 * Monorchism Monorchism (also monorchidism) is the state of having only one testicle within the scrotum. Terminology An individual having monorchism can be referred to as ''monorchid''. Causes This can be due to one testicle: * Not descending into the scr ... References Congenital disorders of endocrine system Congenital disorders of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Monorchism
Monorchism (also monorchidism) is the state of having only one testicle within the scrotum. Terminology An individual having monorchism can be referred to as ''monorchid''. Causes This can be due to one testicle: * Not descending into the scrotum during normal embryonic or fetal development (3–4% of "normal" live births), also known as undescended testis or cryptorchidism. In this case the testis is within the abdominal cavity, somewhere along the normal route of descent – most commonly, within the inguinal canal. Such a testis has an increased risk of malignancy. * Disappearing during development (the so-called vanishing testis) due to some intrauterine insult. This is thought to be most likely vascular, such as testicular torsion. * Not being created in the first place (gonadal agenesis), known as ''congenital'' monorchism. (As of 1974, this was believed to occur in roughly 1 in every 5,000 people with a male phenotype. In contrast, absence of ''both'' testes, known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonads
A gonad, sex gland, or reproductive gland is a mixed gland and sex organ 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 Spermatozoon, spermatozoa. The female gonad, the ovary, produces egg cells. Both of these gametes are haploid cells. Some hermaphroditic animals (and some humanssee Ovotesticular syndrome) 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 (LH) and follicle-stimulating hormone (FSH), produced and secreted by gonadotropic cell, gonadotropes or gonadotrophins in the anterior pituitary gland. This secretion is regulated by gonadotropin-releasing hormone (GnRH) produced in the hypothalamus. Development The gonads develop from three sources ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of 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 generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, 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 ... [...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 Asymptomatic (or clinically silent) is an adjective categorising the medical conditions (i.e., injuries or diseases) that patients carry but without experiencing their symptoms, despite an explicit diagnosis (e.g., a positive medical test). P ... and reported as an incidental finding 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 Fewer 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 (medical), 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. A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gonadal Dysgenesis
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. 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 process, which is primarily controlled genetically by the chromosomal sex ( XX or XY), which directs the formation of the gonad (ovary or testicle). 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 phenotyp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypogonadism
Hypogonadism means diminished functional activity of the human gonad, gonads—the testicles or the ovary, ovaries—that may result in diminished biosynthesis, 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, dehydroepiandrosterone, DHEA, anti-Müllerian hormone, activin, and inhibin. Spermatogenesis, Sperm development (spermatogenesis) and ovulation, 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 (medication), ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders Of Endocrine System
A birth defect 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 birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
