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.
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页码：529 / 531
页数：3
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