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Article

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

The Journal of steroid biochemistry and molecular biology - 1 Jan 2016

Nguyen Huy-Hoang, Eiden-Plach Antje, Hannemann Frank, Malunowicz Ewa M, Hartmann Michaela F, Wudy Stefan A, Bernhardt Rita

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis. Steroid 11β-hydroxylase deficiency (11β-OHD) due to mutations in the CYP11B1 gene is the second most common form of CAH. In this study, 6 patients suffering from CAH were diagnosed with 11β-OHD using urinary GC-MS steroid metabolomics analysis. The molecular basis of the disorder was investigated by molecular...

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PMID: 26476331
DOI: 10.1016/j.jsbmb.2015.10.011

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