先天性肾上腺皮质增生所致女性外生殖器男性化畸形的诊断与治疗

The diagnosis and management of genital virilization in female patients with congenital adrenal hyperplasia

本文分析了先天性肾上腺皮质增生所致女性外生殖器男性化畸形32例。31例为21-羟化酶缺乏,1例为11-羟化酶缺乏。外生殖器男性化畸形按 Prader 标准分为5型。本文详细描述了5型的外观表现。32例中以Ⅱ与Ⅲ型最为多见。4例按男性长大,其中2例幼时检查后纠正为女性,另2例已成年,难于改变性别。准确诊断性别对此症十分重要。一旦确诊,需终身补充皮质激素,以抑制 ACTH过度分泌而导致雄激素过剩及糖和(或)盐皮质激素的不足。外生殖器男性化畸形需行阴蒂与阴道整形术。文章并介绍了手术时间与方法。治疗后随诊月经,4例自然初潮,15例用药后初潮。9例已婚,5例已妊娠分娩,婴儿均健康。

Analysis of 32 female patients with congenital adrenal hyperp]asia and external genital virilization.31 cases were due to 21-hydroxylase deficiency and 1 with 11-hydroxylaes deficiency.External genital viril- ization were divided into 5 stage according to Prader's classification.External appearance of different stages were discribed.Stage Ⅱ and Ⅲ were the most fre- quent ones encountered.Because of external genital virilization,4 cases were brought up as males,but 2 of them were reverted to females in their childhood while the other 2 were already adults and difficult to change their social sex resulting in lifelong regret. So,early diagnosis is most important in this disease. Once diagnosed,lifelong replacement with cortisone is able to suppress excess androgen production.Geni- tal anomaly can be corrected by various kinds of plas- tic operations.4 cases had spontaneous onset of mens- truation and 15 cases after treatment.9 already married,5 became pregnant with delivery of 3 girls and 2 boys all healthy.Early diagnosis and treatment Will succeed in satisfactory results.