Article
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Hormones (Athens, Greece) - 1 Apr 2016
Shammas Christos, Byrou Stefania, Phelan Marie M, Toumba Meropi, Stylianou Charilaos, Skordis Nicos, Neocleous Vassos, Phylactou Leonidas A
Abstract excerpt
OBJECTIVE: Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In the present study, the second most common cause for non-classic CAH (NC-CAH), 11β-hydroxylase deficiency due to mutations...
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