肾上腺增生2
基因病名称(英)
Adrenal hyperplasia 2
关键字(英)
Congenital adrenal hyperplasia
别名(英)
3-beta-HSD deficiency,3-beta-hydroxysteroid dehydrogenase type II deficiency,Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency,Adrenal hyperplasia type II,AH-II,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency
别名
3-β-HSD 缺乏症，3-β-羟基类固醇脱氢酶 II 型缺乏症，肾上腺增生，先天性，由于 3-β-羟基类固醇脱氢酶 2 缺乏症，肾上腺增生症 II 型，AH-II，先天性肾上腺增生症由于 3-β -羟基类固醇脱氢酶II型缺乏症
统计
reviewed:1; annotated:0
交叉引用
201810,C0342471,D000312
描述(英)
A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.
描述
先天性肾上腺增生的一种形式，一种由皮质醇合成缺陷引起的常见隐性疾病。先天性肾上腺增生的特征是雄激素过多导致受影响女性的生殖器模糊，两性儿童在儿童期快速生长，骨骺过早闭合和成年身材矮小。四种临床类型：“盐消耗”（SW，最严重的类型）、“简单男性化”（SV，受影响较轻的患者）、醛固酮生物合成正常、“非经典形式”或迟发性（NC 或 LOAH）和“神秘”（无症状）。在 AH2 中，男性化不那么明显或不会发生。AH2 在生命早期常常是致命的。