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Article

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report.

BMC endocrine disorders - 30 Oct 2019

Splittstösser Vera, Schreiner Felix, Gohlke Bettina, Welzel Maik, Holterhus Paul-Martin, Woelfle Joachim

Abstract excerpt

BACKGROUND: We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. CASE PRESENTATION: In a now 15-year-old girl (born at 41 + 6 weeks of gestation) adrenal failure was diagnosed in the neonatal period based on the clinical picture with spontaneous hypoglycaemia, hyponatremia and an extremely elevated concentration...

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Identifiers

PMID: 31666050
DOI: 10.1186/s12902-019-0448-2
PMCID: PMC6821031

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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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