Nonclassic Congenital Adrenal Hyperplasia: An Overview

The document reviewed nonclassic congenital adrenal hyperplasia (NCCAH), a common disorder caused by CYP21A2 gene mutations, leading to impaired cortisol production. Symptoms range from premature pubarche to infertility, though some individuals are asymptomatic. NCCAH's prevalence varies ethnically, with higher rates in Ashkenazi Jews (1 in 30) compared to non-Jewish Caucasians (1 in 1,000). Diagnosis involves measuring 17-hydroxyprogesterone post-ACTH stimulation, with genetic testing for ambiguous cases. Symptomatic patients may receive glucocorticoids, but the benefit of treating those with mild or no symptoms is uncertain and potentially harmful. The document highlighted the need for personalized treatment and further research to understand NCCAH's diverse clinical presentation.