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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 1 ] [ 2 ] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex . [ 3 ]
There is a consensus that classical CAH is an intersex condition. However, for the nonclassical CAH, there is a debate on whether it can be considered an intersex condition. Anne Fausto-Sterling, an American sexologist, in a 2000 book "Sexing the Body" came up with an estimate that people with intersex conditions account for 1.7% of the general ...
The argument over terminology reflects a deeper disagreement over the extent to which intersex conditions require medical intervention, the appropriateness of certain interventions, and whether physicians and parents should make irreversible treatment decisions on behalf of young children if the condition is not life-threatening.
Leonard Sax, an American psychologist and a family physician, criticized these figures in a review published in 2002 in The Journal of Sex Research, stating that from the clinician's perspective, LOCAH is not an intersex condition. [64] Including LOCAH in intersex prevalence estimates has been cited as an example of misleading statistical practice.
This is an accepted version of this page This is the latest accepted revision, reviewed on 1 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 rights ...
[92] [93] As technologies advanced, clinicians became able to detect intersex conditions such as congenital adrenal hyperplasia and Turner syndrome before the birth of the child. [32] [94] During the 1990s, intersex activists challenged the use of corrective genital surgery and the stigma around intersex variations.
It accounts for less than 5% of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of about 1 in 1,000,000 births. [2] The most common forms of this condition impair both the 17α-hydroxylase activity and the 17,20-lyase activity of CYP17A1.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...