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

Mary B Abraham; Vinutha B Shetty; Fiona McKenzie; Jacqueline Curran

doi:10.1007/s13312-016-0885-1

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

Indian Pediatr. 2016 Jun 8;53(6):529-31. doi: 10.1007/s13312-016-0885-1.

Authors

Mary B Abraham¹, Vinutha B Shetty, Fiona McKenzie, Jacqueline Curran

Affiliation

¹ Department of Endocrinology, Princess Margaret Hospital,; #School of Paediatrics and Child Health, The University of Western Australia; and $Genetic Services of Western Australia, Princess Margaret Hospital and King Edward Memorial Hospital; Perth, Australia. Correspondence to: Dr Mary B Abraham, Department of Endocrinology and Diabetes, Princess Margaret Hospital, Perth, Australia. Mary.Abraham@health.wa.gov.au.

PMID: 27376611
DOI: 10.1007/s13312-016-0885-1

Abstract

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.

Publication types

Case Reports

MeSH terms

Adrenal Insufficiency* / diagnosis
Adrenal Insufficiency* / genetics
Adrenal Insufficiency* / physiopathology
Child, Preschool
DAX-1 Orphan Nuclear Receptor / genetics*
Genetic Diseases, X-Linked* / diagnosis
Genetic Diseases, X-Linked* / genetics
Genetic Diseases, X-Linked* / physiopathology
Humans
Hypoadrenocorticism, Familial
Male
Mutation / genetics

Substances

DAX-1 Orphan Nuclear Receptor
NR0B1 protein, human