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Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation

✍ Scribed by Bayram Toraman; Ayşenur Ökten; Ersan Kalay; Gülay Karagüzel; Tuba Dinçer; Emel Gül Açıkgöz; Ahmet Karagüzel

Book ID
118062283
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
604 KB
Volume
513
Category
Article
ISSN
0378-1119

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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