Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis

Valeria Alcantara-Aragon, Silvia Martinez-Couselo, Diana Tundidor-Rengel, Susan M. Webb, Gemma Carreras, Juan J. Espinos, Ana Chico, Francisco Blanco-Vaca, Rosa Corcoy

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Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases, with an estimated prevalence of 1 in 1000. It may manifest at different stages in life. In late childhood, it may present with advanced skeletal maturation …