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

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

Abstract 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...

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Bibliographic Details
Main Authors: Vera Splittstösser, Felix Schreiner, Bettina Gohlke, Maik Welzel, Paul-Martin Holterhus, Joachim Woelfle
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Endocrine Disorders
Subjects:
StAR
Lipoid congenital adrenal hyperplasia
Heterochromia iridis
Online Access:http://link.springer.com/article/10.1186/s12902-019-0448-2

Internet

http://link.springer.com/article/10.1186/s12902-019-0448-2

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