Hattori N, Ishihara T, Moridera K, Hino M, Ikekubo K, Kurahachi H
Department of Endocrinology, Kobe City General Hospital, Japan.
Endocr J. 1993 Feb;40(1):107-9. doi: 10.1507/endocrj.40.107.
Late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency has been reported with increasing frequency, but only a few adult women have been found to have this disorder in Japan. We report a 26-year-old Japanese hirsute woman with partial 3 beta-hydroxysteroid dehydrogenase deficiency. The diagnosis was based on significantly increased ratios of 17-hydroxypregnenolone to 17-hydroxyprogesterone and of dehydroepiandrosterone to androstenedione after administration of ACTH. Hirsutism improved with the administration of dexamethasone (0.5 mg) every evening. Since routine assay of delta 5-steroid metabolites has become available, the incidence of this disorder will increase. Diagnostic effort should be attempted since the disorder is treatable with low-dose dexamethasone.
据报道，由3β-羟类固醇脱氢酶缺乏引起的迟发性先天性肾上腺皮质增生症的发病率呈上升趋势，但在日本仅发现少数成年女性患有这种疾病。我们报告了一名26岁多毛的日本女性，患有部分3β-羟类固醇脱氢酶缺乏症。诊断依据是注射促肾上腺皮质激素后，17-羟孕烯醇酮与17-羟孕酮的比率以及脱氢表雄酮与雄烯二酮的比率显著升高。每晚服用地塞米松（0.5毫克）后多毛症状有所改善。由于现已能够常规检测δ5-类固醇代谢产物，这种疾病的发病率将会增加。鉴于该疾病可用低剂量地塞米松治疗，应努力进行诊断。
