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Article

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

Indian pediatrics - 8 Jun 2016

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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