Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1

被引：50

作者：

Achermann, JC

Silverman, BL

Habiby, RL

Jameson, JL

机构：

[1] Northwestern Univ, Sch Med, Div Endocrinol Metab & Mol Med, Chicago, IL 60611 USA

[2] Childrens Mem Hosp, Chicago, IL 60614 USA

来源：

JOURNAL OF PEDIATRICS | 2000年 / 137卷 / 06期

关键词：

D O I：

10.1067/mpd.2000.108567

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A novel DAX1 mutation (L381H) was discovered in the asymptomatic 8-month-old brother of a boy with primary adrenal failure. The infant had impaired adrenal reserve despite normal basal adrenal steroid concentrations; This case highlights the value of genetic testing in children at risk of the development of X-linked adrenal hypoplasia congenita before the onset of a potentially life-threatening adrenal crisis.

引用

页码：878 / 881

页数：4

共 18 条

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