Phenotypic Profiling of Parents With Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families

In the 2011 study involving 249 parents from 145 unrelated families, researchers found that 4% of the parents had cryptic nonclassic congenital adrenal hyperplasia (NCCAH). Most of these parents were asymptomatic, although some women experienced temporary infertility and menstrual irregularities, and a few had been treated for hirsutism or androgenic alopecia. Men showed no symptoms. The study concluded that routine glucocorticoid therapy is not necessary for adults with NCCAH identified through family genotype studies unless they are symptomatic. However, glucocorticoid stress coverage may be needed in certain cases. The risk of a parent of a child with CAH having NCCAH is 1 in 25, and evaluation for NCCAH is recommended for mothers with infertility.