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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [15] [35] [36]
This is an accepted version of this page This is the latest accepted revision, reviewed on 24 February 2025. Atypical congenital variations of sex characteristics This article is about intersex in humans. For intersex in other animals, see Intersex (biology). Not to be confused with Hermaphrodite. Intersex topics Human rights and legal issues Compulsory sterilization Discrimination Human ...
In boys, a karyotype is indicated if the child may have a congenital gonadal defect such as Klinefelter syndrome. [2] In children with a normal karyotype, defects in the synthesis of the adrenal steroid sex hormones can be identified by measuring 17-hydroxylase, an important enzyme involved in the production of sex hormones. [7]
[83] [84] Those with Klinefelter syndrome are likely to experience language issues. 70 to 80 percent of males with Klinefelter syndrome experience language difficulties at an early age; impairments in verbal fluency and confrontation naming have been found in adolescents and adults. Reading difficulties are similarly common in children and ...
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is a very rare genetic disorder which is characterized by congenital muscular dystrophy, infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. [2]
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
Turner syndrome and Klinefelter syndrome. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of hypogonadism: [citation needed] Opioid-induced androgen deficiency (resulting from the prolonged use of opioid-class medications, e.g. codeine, Dihydrocodeine, morphine, oxycodone, methadone, fentanyl, hydromorphone, etc.)
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.