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

被引：6
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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