肾上腺增生 5
基因病名称(英)
Adrenal hyperplasia 5
关键字(英)
Congenital adrenal hyperplasia
别名(英)
Adrenal hyperplasia type V,AH-V,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
别名
V型肾上腺增生，AH-V型，17-α-羟化酶缺乏引起的先天性肾上腺增生
统计
reviewed:1; annotated:0
交叉引用
202110,C0268285,C2242824,C3277849,C3277851,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).
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）。