Mathieson J, Couzinet B, Wekstein-Noel S, Nahoul K, Turpin G, Schaison G
Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, France.
Clin Endocrinol (Oxf). 1992 Apr;36(4):383-8. doi: 10.1111/j.1365-2265.1992.tb01464.x.
The present study was designed to determine the incidence of 3 beta-hydroxysteroid dehydrogenase deficiency (3 beta-HSD) in adult women with hyperandrogenism.
In 78 hirsute patients and 30 normal women in the same age range, an ACTH stimulation test was performed on day 5 of the cycle by administration of a single bolus of 0.25 mg ACTH-(1-24) at 0800 h.
The following steroids were measured before, 30 and 60 minutes after ACTH injection: delta 5-pregnenolone (delta 5-P), 17-hydroxy-delta 5-pregnenolone (17-OH delta 5-P), dehydroepiandrosterone (DHEA), delta 5-androstenediol, progesterone (P), 17-hydroxyprogesterone (17-OHP), androstenedione (A), testosterone (T) and cortisol.
Maximum ACTH-stimulated values of delta 5-steroids were in excess of the 90% confidence limits of the control group in 19 hirsute women. Ten patients had an isolated increase in delta 5-P, 17-OH delta 5-P, DHEA or delta 5-androstenediol. Nine patients had an increase in two delta 5 steroids and none had increased values of three or four delta 5 steroids. The ratios of 17-OH delta 5-P to 17-OHP, DHEA to A, delta 5-P to P and delta 5-androstenediol to T were increased in 5, 1, 1 and 1 patients respectively. No patient had elevated values of more than one ratio.
Using stringent diagnostic criteria, partial 3 beta-HSD deficiency was excluded in all 78 patients and therefore appears to be a rare disorder.
本研究旨在确定成年高雄激素血症女性中3β-羟基类固醇脱氢酶缺乏症（3β-HSD）的发生率。
对78例多毛症患者和30例年龄范围相同的正常女性，在月经周期第5天上午8点给予0.25mg促肾上腺皮质激素（ACTH）-（1-24）单次推注进行ACTH刺激试验。
在注射ACTH前、注射后30分钟和60分钟测量以下类固醇：δ5-孕烯醇酮（δ5-P）、17-羟基-δ5-孕烯醇酮（17-OHδ5-P）、脱氢表雄酮（DHEA）、δ5-雄烯二醇、孕酮（P）、17-羟孕酮（17-OHP）、雄烯二酮（A）、睾酮（T）和皮质醇。
19例多毛症女性中，ACTH刺激后δ5-类固醇的最大值超过对照组90%置信区间。10例患者仅δ5-P、17-OHδ5-P、DHEA或δ5-雄烯二醇升高。9例患者两种δ5类固醇升高，无一例三种或四种δ5类固醇升高。17-OHδ5-P与17-OHP、DHEA与A、δ5-P与P、δ5-雄烯二醇与T的比值分别在5例、1例、1例和1例患者中升高。没有患者超过一种比值升高。
采用严格的诊断标准，78例患者均排除部分3β-HSD缺乏症，因此似乎是一种罕见疾病。
