Pang S
Department of Pediatrics, University of Illinois at Chicago College of Medicine, University of Illinois Hospital 60612, USA.
Baillieres Clin Obstet Gynaecol. 1997 Jun;11(2):281-306. doi: 10.1016/s0950-3552(97)80038-7.
A clinical spectrum, varying from prenatal onset to postnatal onset of symptoms, exists in all hyperandrogenic forms of congenital adrenal hyperplasia (CAH). Postnatal onset hyperandrogenic symptoms such as premature pubarche, clitoromegaly, hirsutism, menstrual disorders and infertility are well known manifestations of CAH due to 21-hydroxylase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency or 11 beta-hydroxylase deficiency. These hyperandrogenic symptoms of CAH are clinically indistinguishable from other causes of hyperandrogenism. The molecular data has proven the genetic basis for the phenotypic variability of CAH disorders. Specific hormonal criterion(a) defined by the molecular proof of the disorder should aid in discriminating between symptomatic patients due to CAH and other causes, and between those with mild and severe CAH disorders. Prevalence of the hyperandrogenic forms of CAH, as well as pubertal maturation and reproductive function in women with hyperandrogenic forms of CAH, are discussed.
在所有雄激素过多型先天性肾上腺皮质增生症（CAH）中，都存在从产前症状发作到产后症状发作的临床谱系。产后出现的雄激素过多症状，如青春期早熟、阴蒂肥大、多毛症、月经紊乱和不孕不育，是21-羟化酶缺乏症、3β-羟类固醇脱氢酶缺乏症或11β-羟化酶缺乏症所致CAH的常见表现形式。CAH的这些雄激素过多症状在临床上与其他雄激素过多的病因难以区分。分子数据已证实CAH疾病表型变异的遗传基础。由该疾病的分子证据所定义的特定激素标准应有助于区分CAH引起的有症状患者与其他病因引起的患者，以及轻度和重度CAH疾病患者。本文讨论了雄激素过多型CAH的患病率，以及雄激素过多型CAH女性的青春期发育和生殖功能。
