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[8] [3] Between 35 and 45% of cases of KS/CHH have an unknown genetic cause. [28] The ANOS1 gene defect (previously known as KAL-1) was the first one discovered and the one most commonly tested for. It causes the x-linked form of Kallmann syndrome and is associated with the additional symptoms of anosmia, bimanual synkinesis and renal agenesis ...
Müllerian agenesis (including absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhoea. [2] Because most of the vagina does not develop from the Müllerian duct, instead developing from the urogenital sinus, along with the bladder and urethra, it is present even when the Müllerian duct is completely absent.
Hennekam syndrome, also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, [1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.
Hyperthermia causes anencephaly, which is when part of the brain and skull are absent in the infant. [61] [68] Mother exposure to toxoplasmosis can cause cerebral calcification, hydrocephalus (causes mental disabilities), [69] and intellectual disability in infants. Other birth abnormalities have been reported as well, such as chorioretinitis ...
MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women. ARX: Aristaless related homeobox, is a protein associated with intellectual disability and lissencephaly. This gene is a homeobox-containing gene expressed ...
The ancient Greek method for treating a prolapsed uterus that has extended through and beyond the vaginal introitus. Notable is the mention of vaginal anomalies and pelvic organ prolapse in older cultures and locations. [78] In 1500 B.C. Egyptians wrote about the "falling of the womb".
The cause for vaginal atresia is unknown. Typically, the creation of the vaginal canal is completed within the fetus by the 20th week of gestation. [medical citation needed] Researchers believe in patients with vaginal atresia, tubes known as the Müllerian ducts do not develop correctly within the first 20 weeks of gestation/pregnancy.
The study of X-linked mental retardation began in 1943 when Martin and Bell reported a family exhibiting sex-linked mental retardation. [3] However, this syndrome was not recognized until 1991. Wilson studied 14 males from three successive generations that presented hypogonadism, mental retardation, gynecomastia , and short stature, among other ...