Nonclassic Adrenal Hyperplasia: Clinical Features, Diagnosis, and Treatment

The document reviewed Nonclassic Adrenal Hyperplasia (NCAH), a condition caused by mutations in the CYP21A2 gene, leading to a partial deficiency of 21-hydroxylase and excess adrenal androgens. NCAH can result in premature adrenarche and pubarche in children, virilization in women, and variable symptoms in men, with prevalence varying by ethnicity. Diagnosis is made using the ACTH stimulation test. Clinical signs include rapid growth, advanced bone age, and androgen excess symptoms like hirsutism and acne, with reproductive issues more common in women with NCAH. Treatment with glucocorticoids is reserved for symptomatic individuals, with hydrocortisone preferred for children and prednisone or dexamethasone for adolescents and adults. The document highlighted the need for individualized treatment and monitoring, and noted that genotype analysis aids in diagnosis and genetic counseling but not treatment decisions. Unanswered questions remain regarding the natural history of NCAH and the identification of who should receive glucocorticoid treatment.