一名患有特纳综合征的女孩因经典型21-羟化酶缺乏导致女性假两性畸形。
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.
作者信息
Maciel-Guerra A T, Guerra G, Marini S H, Matias Baptista M T, Marques-de-Faria A P
机构信息
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
出版信息
Clin Genet. 1997 May;51(5):351-3. doi: 10.1111/j.1399-0004.1997.tb02487.x.
Abstract
We report on a rare case of female pseudohermaphroditism due to classical 21-hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence.
摘要
我们报告了一例罕见的女性假两性畸形病例，其病因是经典型21-羟化酶缺乏症，并伴有特纳综合征（45,X/46,XX）。文中简要讨论了这两种疾病管理上的困难。我们认为这种罕见的组合是一种巧合。
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