Phenotype and genotype of some patients with Lipoid congenital adrenal hyperplasia due to star gene mutation
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Abstract
Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of congenital adrenal hyperplasia.. Ouraim is to describe phenotype (clinical manifestations, laboratory tests)and genotype of 5 patientswith LCAH. In our study, we have 2 girls and 3 boys. 5/5 patients presented with severe adrenal impairment in early infancy. 2/3of boys had female external genitalia – typical appearance, 1/3of boys had normal virilization genitals.The investigations showed very high ACTH levels, salt losing, while 17OHP level was normal or decreased.Molecular testing using next generation sequencing identified mutations in StAR, which helps confirmation of the lipoid congenital adrenal hyperplasia – a rare cause of adrenal failure, better treatment and genetic counseling.
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Keywords
Lipoid congenital adrenal hyperplasia, adrenal insufficiency, StAR
References
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