Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia: An Update

The document from 2012 provides an overview of nonclassic congenital adrenal hyperplasia (NCCAH), a condition with 20-50% of normal 21-hydroxylase enzyme activity, which is more common than classic CAH. It affects 1:1000-1:2000 births in the White population and has a higher incidence in certain ethnic groups. The paper outlines the clinical manifestations of untreated NCCAH, including rapid growth, advanced bone age, and symptoms of androgen excess like hirsutism and menstrual irregularities. Diagnosis is primarily through the ACTH stimulation test, with treatment recommended for symptomatic individuals, particularly those with signs of androgen excess. The document also discusses long-term health concerns such as insulin resistance and cardiovascular disease, and notes the importance of genetic counseling due to the risk of offspring with classic CAH. It emphasizes the need for further research for optimal management and treatment of NCCAH.