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p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

✍ Scribed by Paola Concolino; Enrica Mello; Maria Cristina Patrosso; Silvana Penco; Cecilia Zuppi; Ettore Capoluongo

Book ID: 113799391
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 479 KB
Volume: 61
Category: Article
ISSN: 1532-8600
DOI: 10.1016/j.metabol.2011.08.008

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## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp