迟发型21羟化酶缺陷症的临床特点

本文对8例迟发型和42例非失盐性经典型21-羟化酶缺陷症(21 H D)患者的临床表现进行了比较。两组患者全部为女性。结果发现:(1)迟发型患者女性特征有较好发育,8例中6例月经已来潮,4例基本正常,5例有不同程度乳房发育;经典型全部为原发性闭经,仅1例乳房为Ⅱ期,余全部为Ⅰ期;(2)迟发型患者男性化程度轻,虽全部有轻度阴蒂肥大,但均无明显大阴唇融合;经典型阴蒂肥大重,且42例中有20例大阴唇融合显著。迟发型8例中有4例仅有多毛及月经紊乱或不育,无明显男性体型、喉结增大、嗓音增粗及胡须;经典型10岁以上的25例男性化程度严重。

Comparison of clinical manifestations between lateonset and classical 21-hydrosylase deficieny

Clinical manifestations of two groups of 21-hy-droxylase deficiency(21HD) were compared in thisreport.Group 1 consisted of 8 female cases of late-on-set form and group 2 consisted of 42 cases of classicalform,without salt-loosing.The results were:(1) Ingroup 1,6 had spontaneous menstrual cycles and 5had varying degrees of breast development(Tannerstage Ⅲ～Ⅳ) before treatment.While all cases ingroup 2 showed primary amenorrbea and no breastdevelopment,except in one with Tanner stage Ⅱ.(2)Virilization in group 1 was much milder than in group2.All cases in group 1 had mild clitoromegaly with-out labial fusion.While in group 220 cases had defi-nite labial fusion.In group 1 only 4 cases had somehirsutism,menstrual irregularity and infertility.Nodefinite male body built,adam apple,low voice orbeard.While in group 225 cases of above I0 yearsold had severe degrees of virilization.