P450c17 Deficiency in Kuwaiti Patients

被引：0

作者：

Essam, Aref ^{[1
]}

Taisser, Mostafa ^{[1
]}

Klingmueller, Dietrich ^{[2
]}

机构：

[1] Armed Forces Hosp, Kuwait, Kuwait

[2] Univ Hosp Internal Med I, Div Endocrine, Bonn, Germany

来源：

KUWAIT MEDICAL JOURNAL | 2016年 / 48卷 / 02期

关键词：

congenital adrenal hyperplasia; disorders of sex development; steroid; 17-alpha-hydroxylase; CYP 17A1 gene mutation;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cytochrome P450c17 deficiency is a very rare autosomal recessive form of congenital adrenal hyperplasia caused by CYP 17A1 gene mutation. We report two phenotypic female patients (46, XY) from Kuwait which are characterized by primary amenorrhea and sexual infantilism with low cortisol, sex and gonadal peptide hormones (inhibin B and AMH). The elder one had high blood pressure and hypokalemia. The multiplex ligation-dependent probe amplification - method of this patient revealed a deletion of exon 1-6 in the CYP 17A1 gene.

引用

页码：145 / 147

页数：3

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