Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the adult woman

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disease with a varying phenotype depending on the mutation(s) present and the severity of the disease. All children with CAH need to be continuously cared for from birth or early infancy by specialists in paediatric endocrinology and surgery. Complications due to over- or under-treatment with corticosteroids are often seen during adolescence, and these problems often continue into adulthood. For the young woman with CAH, questions about menstruation, sexuality, fertility and the possible necessity of complementary surgery are always important issues that need to be discussed. To meet the needs of the young woman with CAH, it is important that the transition from paediatric to adult care be a process of parallel consultations over several years, always involving an experienced gynaecologic endocrinologist. (C) 2004 Elsevier Ltd. All rights reserved.