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Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficie...

Lurdes de Matos, Maria; Antunes, Diana; Gonçalves, João; Lopes, Lurdes; Kay, Teresa

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood. Severity of this disease is correlated with the enzymatic blockade of 21-Hydroxylase which depends of the mutation in gene CYP21A2. Two clinical forms are possible: clas...

Date: 2016   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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