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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 ]
It primarily relates to virilization of the female genitalia in cases of congenital adrenal hyperplasia (CAH) and identifies five distinct stages, but in recent times has been used to describe the range of differentiation of genitalia, with normal infant presentation being shown on either end of the scale, female on the left (0) and male on the ...
[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 ...
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]
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.
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 ...
Vaginal stenosis is the most common post-operative complication in people with congenital adrenal hyperplasia who have had genital reconstructive surgery in infancy or childhood. [17] Vaginal stenosis can be an immediate complication or may arise later in adolescence. [8]
Congenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [23] [24] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. [25]