A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report
Splittstösser V, Schreiner F, Gohlke B, Welzel M, Holterhus PM, Wölfle J (2019)
Publication Type: Journal article
Publication year: 2019
Journal
Book Volume: 19
Pages Range: 116-
Journal Issue: 1
DOI: 10.1186/s12902-019-0448-2
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 period based on the clinical picture with spontaneous hypoglycaemia, hyponatremia and an extremely elevated concentration of ACTH (3381 pmol/l; ref. level 1,1-10,1 pmol/l), elevated renin (836 ng/l; ref. level 5-308 ng/l), and a decreased concentration of aldosterone (410 pmol/l; ref. level 886-3540 pmol/l). In addition to hyperpigmented skin the patient exhibited sectorial heterochromia iridis. Sequence analysis of the steroidogenic acute regulatory protein (StAR) gene showed a novel homozygous mutation (c.652G > A (p.Ala218Thr), which was predicted in-silico to be possibly damaging. Under daily steroid substitution her electrolyte levels are balanced while she became obese. Puberty occurred spontaneously. CONCLUSION: A novel mutation in the StAR gene was identified in a patient with severe adrenal hypoplasia and sectorial heterochromia iridis. We discuss a causal relationship between these two rare phenotypes, i.e. whether very high levels of ACTH and alpha-MSH during early development might have disturbed early differentiation and distribution of uveal melanocytes. If confirmed in additional cases, discolorization of the iris might be considered as an additional phenotypical feature in the differential diagnosis of congenital adrenal insufficiency.
Authors with CRIS profile
Involved external institutions
Rheinische Friedrich-Wilhelms-Universität Bonn
Germany (DE)
Christian-Albrechts-Universität zu Kiel
Germany (DE)
Germany (DE)
Christian-Albrechts-Universität zu Kiel
Germany (DE)
How to cite
APA:
Splittstösser, V., Schreiner, F., Gohlke, B., Welzel, M., Holterhus, P.M., & Wölfle, J. (2019). A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report. BMC Endocrine Disorders, 19(1), 116-. https://doi.org/10.1186/s12902-019-0448-2
MLA:
Splittstösser, Vera, et al. "A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report." BMC Endocrine Disorders 19.1 (2019): 116-.
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