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Article

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Hormone research - 1 Jan 2009

Krone Nils, Grötzinger Joachim, Holterhus Paul-Martin, Sippell Wolfgang G, Schwarz Hans-Peter, Riepe Felix G

Abstract excerpt

BACKGROUND: Steroid 11-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Herein, we describe two novel CYP11B1 mutations (g659_660dupTG, p.M92X; g.4817G>A, p.R453Q) found in a patient diagnosed with classic 11OHD, after presenting with borderline elevated 17-hydroxyprogesterone concentrations in CAH newborn screening. METHODS: A novel CYP11B1 variant...

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PMID: 19844114
DOI: 10.1159/000245930

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