Premature adrenarche, hirsutism and primary amenorrea: Which diagnosis?|Pubarca precoce, irsutismo, amenorrea e bassa statura: Quale diagnosi?

Non-classical congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms. The article reports a case of NCCAH due to 21-hydroxylase deficiency in a 14-year-old girl with premature adrenarche, hirsutism and primary amenorrea. Premature adrenarche is a benign diagnosis, but can also result from severe pathology, which makes it necessary to find the cause of premature exposition to androgens. In conjunction with history and clinical examination, first line investigations should include determination of serum androgen concentrations, along with bone age, proceeding to synacthen stimulation test (for 17OHP levels) and adrenal ultrasound if indicated.