Ⅱ型醛固酮合成酶缺陷症合并尿道下裂。

Aldosterone synthase deficiency type II with hypospadias.

机构信息

Department of Endocrinology, University Childrens Hospital Skopje, Vodnjanska 17, 1000 Skopje, Macedonia.

出版信息

Indian Pediatr. 2012 Apr;49(4):318-20.

Abstract

Aldosterone synthase deficiency (ASD) type II was diagnosed in a 3 week old boy with severe dehydration. Elevated plasma renin activity, low-normal aldosterone, increased levels for 18-OH corticosterone (18-OHB) and 18-OH-deoxycorticosterone were measured. Sequencing revealed a homozygous mutation for c554C > T in exon 3 (p.T185I) (CYP11B2). Hypospadias has so far not been reported in ASD.

摘要

该患儿 3 周龄，因严重脱水就诊，诊断为 II 型醛固酮合酶缺乏症。检测发现患儿血浆肾素活性升高，醛固酮水平正常低值，18-羟皮质酮（18-OHB）和 18-羟去氧皮质酮水平升高。基因测序显示 CYP11B2 第 3 外显子 c554C > T 杂合突变（p.T185I）。到目前为止，醛固酮合酶缺乏症患者并未报告有尿道下裂。