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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 ]
[2] [3] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of congenital adrenal hyperplasia. [4] Unless another specific enzyme is mentioned, CAH in most contexts refers to 21-hydroxylase deficiency, and different mutations related to enzyme impairment have ...
Ethical issues have been raised about New's research. Namely, it has been questioned whether pregnant women undergoing treatment for the possible effects of congenital adrenal hyperplasia on their unborn babies were properly informed concerning the treatments that were administrated to them. [2] In September 2010 the FDA found nothing worth ...
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), [1] a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess. [1] [2] [3] [4]
In studies of the common form of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency, Miller's group discovered the gene for Tenascin-X, overlapping the CYP21A2 gene. [7] They then discovered a contiguous gene syndrome from a deletion encompassing both CYP21A2 and TNX, causing CAH and Ehlers-Danlos syndrome (EDS). [8]
Late-onset congenital adrenal hyperplasia. Congenital adrenal hyperplasia is a condition in which the adrenal glands produce too little cortisol and an excess of androgens. In women, this can lead ...
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase (3β-HSD) type II ().
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation in the gene CYP17A1, which produces the enzyme 17α-hydroxylase. [1] [2] It causes decreased synthesis of cortisol and sex hormones, with resulting increase in mineralocorticoid production.
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