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21-羟化酶完全阻断导致女性假两性畸形的晚期发现(作者译)

[Late discovery of female pseudo-hermaphroditism by complete blockade 21-hydroxylase (author's transl)].

作者信息

Heim J, Massart C, Lémée F, Amice-Chambon V

出版信息

Nouv Presse Med. 1981 Dec 26;10(47):3841-3.

PMID:6977130
Abstract

The authors report on a case where complete blockade of 21-hydroxylase was discovered in a 40-year-old subject. They emphasize the usefulness of urinary 17-ketosteroid and 17-OH progesterone assays in the diagnosis of pseudo-hermaphroditism. In contrast to major hyperandrogenism, the HY antigen test is negative, since the percentage of fluorescent lymphocytes is even lower than in the normal female population.

摘要

作者报告了一例在一名40岁受试者中发现21-羟化酶完全阻断的病例。他们强调尿17-酮类固醇和17-羟孕酮检测在假性两性畸形诊断中的作用。与主要的高雄激素血症不同,HY抗原检测呈阴性,因为荧光淋巴细胞的百分比甚至低于正常女性群体。

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