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

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, accelerated growth or premature pubarche. In adult women, the disease usually presents with a hyperandrogenic syndrome including hirsutism, acne, androgenic alopecia, anovulation, menstrual dysfunction, and infertility. However, not all individuals with NCCAH are symptomatic and affected males are not usually detected until a female family member is diagnosed.