Nishi Y
Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
Endocrinol Jpn. 1990 Oct;37(5):763-7. doi: 10.1507/endocrj1954.37.763.
Two young girls with hirsutism and premature pubarche showed nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. Post-ACTH increased serum delta 5-17-hydroxypregnenolone and increased ratio of delta 5-17-hydroxypregnenolone/17-hydroxyprogesterone are the most sensitive indicators of nonclassical 3 beta-HSD deficiency. Nonclassical 3 beta-HSD deficiency may not be uncommon, but most cases may have gone unrecognized. Routine assay of delta 5-17-hydroxypregnenolone should be made generally available.
两名患有多毛症和青春期阴毛早现的年轻女孩表现出非典型3β-羟基类固醇脱氢酶（3β-HSD）缺乏症。促肾上腺皮质激素（ACTH）刺激后血清Δ5-17-羟孕烯醇酮升高以及Δ5-17-羟孕烯醇酮/17-羟孕酮比值升高是非典型3β-HSD缺乏症最敏感的指标。非典型3β-HSD缺乏症可能并不罕见，但大多数病例可能未被识别。应普遍开展Δ5-17-羟孕烯醇酮的常规检测。
