17-hydroxylase/17,20 lyase deficiency diagnosed during childhood

被引：8

作者：

Wolthers, OD

Rumsby, G

Techatraisak, K

Honour, JW

Hindmarsh, PC

机构：

[1] UCL Hosp, London Ctr Paediat Endocrinol & Metab, London, England

[2] UCL Hosp, Dept Chem Pathol, London, England

来源：

HORMONE RESEARCH | 2002年 / 57卷 / 3-4期

关键词：

17 alpha-hydroxylase/17,20 lyase deficiency; CYP17; gene; congenital adrenal hyperplasia; urine steroid; metabolites; XY sex reversal;

D O I：

10.1159/000057964

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present a case of familial 17alpha-hydroxylase/17,20 lyase (CYP17) deficiency in which the index case, a 14-year-old XX girl, led to the diagnosis of the condition in a 9-year-old XY sister. No mutations in the CYP 17 gene were found in any of the girls. Copyright (C) 2002 S. Karger AG, Basel.

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页码：133 / 136

页数：4

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