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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 ...
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 ...
Only certain organs in the body, such as the gonads and the adrenal glands, produce the androgen testosterone. Testosterone is converted into dihydrotestosterone, a chemically similar androgen, in cells containing the enzyme 5-alpha reductase. Both androgens exert their influence through binding with the androgen receptor.
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.
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]
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.
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...