CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

January 2013 in “ Hormone and Metabolic Research ”

V. O. Moura-Massari, Diogo Diniz Gomes Bugano, José Antonio Miguel Marcondes, Larissa Gomes, Berenice B. Mendonca, Tânia A. S. S. Bachega

nonclassical congenital adrenal hyperplasia CYP21A2 hyperandrogenic manifestations hirsutism menstrual abnormalities basal testosterone levels ACTH-stimulated 170HP levels hyperandrogenism NC-CAH testosterone ACTH

Studysummary This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.

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