X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation

被引：0

作者：

Abraham, Mary B. ^{[1
]}

Shetty, Vinutha B. ^{[1
,2
]}

McKenzie, Fiona ^{[2
,3
,4
]}

Curran, Jacqueline ^{[1
,2
]}

机构：

[1] Princess Margaret Hosp, Dept Endocrinol, Perth, WA, Australia

[2] Univ Western Australia, Sch Paediat & Child Hlth, Perth, WA 6009, Australia

[3] Princess Margaret Hosp, Genet Serv Western Australia, Perth, WA, Australia

[4] King Edward Mem Hosp, Perth, WA, Australia

来源：

INDIAN PEDIATRICS | 2016年 / 53卷 / 06期

关键词：

Adrenal crisis; Hyponatemia; Diagnosis; FACTOR-I NR5A1; INSUFFICIENCY; CHILDHOOD; DIAGNOSIS;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background: The etiology of primary adrenal insufficiency has implications for further management of the condition. Case characteristics: A 5-year-old boy presented in adrenal crisis with glucocorticoid and mineralocorticoid deficiency. Observation: Investigations confirmed primary adrenal insufficiency and ruled out the common etiologies. Genetic testing identified a novel NR0B1/DAX gene mutation. Message: A genetic diagnosis in children with primary adrenal insufficiency is useful to provide genetic counselling.

引用

页码：529 / 531

页数：3

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