Sundararaman P G, Ammini A C, Khurana M L, Karmarkar M G, Ahuja M M
Department of Endocrinology, All India Institute of Medical Sciences, New Delhi.
Indian J Med Res. 1997 Jan;105:27-31.
The presence of late onset 3 beta-hydroxy steroid dehydrogenase (3 beta-HSD) type of congenital adrenal hyperplasia was studied in 58 north Indian hirsute women. The age range of these patients was 15 to 42 yr. Fifty two per cent of these patients had body mass index > 25. Basal serum testosterone, luteinizing hormone, follicle stimulating hormone, dehydroepiandrosterone sulphate (DHEAS), and 17 hydroxy progesterone (17 OHP) were estimated. All the patients underwent adrenocorticotropin (ACTH) stimulation test after an overnight dexamethasone suppression for the estimation of DHEAS, 17 OHP, and 17 hydroxy pregnenolone (delta 5-17p). Five (8.6%) hirsute women showed an exaggerated 17 OHP response to ACTH indicating 21-hydroxylase deficiency. Eight (13.8%) hirsute women had elevated basal DHEAS and ACTH-stimulated DHEAS as well as delta 5-17P responses indicative of 3 beta-HSD deficiency. In one patient hirsutism was the presenting manifestation of tumoural hyperandrogenism. Our findings indicate the presence of both 21-hydroxylase and 3 beta-HSD deficiency in north Indian hirsute women, with, 3 beta-HSD deficiency being the major cause of hirsutism in this population.
对58名印度北部多毛女性进行了迟发型3β-羟基类固醇脱氢酶（3β-HSD）型先天性肾上腺皮质增生症的研究。这些患者的年龄范围为15至42岁。其中52%的患者体重指数>25。检测了基础血清睾酮、促黄体生成素、促卵泡生成素、硫酸脱氢表雄酮（DHEAS）和17-羟孕酮（17 OHP）。所有患者在隔夜地塞米松抑制后接受促肾上腺皮质激素（ACTH）刺激试验，以评估DHEAS、17 OHP和17-羟孕烯醇酮（δ5-17p）。5名（8.6%）多毛女性对ACTH的17 OHP反应过度，提示21-羟化酶缺乏。8名（13.8%）多毛女性基础DHEAS、ACTH刺激后的DHEAS以及δ5-17P反应升高，提示3β-HSD缺乏。1例患者多毛症是肿瘤性高雄激素血症的首发表现。我们的研究结果表明，印度北部多毛女性中存在21-羟化酶和3β-HSD缺乏，其中3β-HSD缺乏是该人群多毛症的主要原因。
