Clinical features and outcomes of patients with congenital adrenal hyperplasia

Objective To improve the understanding of congenital adrenal hyperplasia in physicians by summarizing its clinical features and outcomes. Methods Clinical data about 45 congenital adrenal hyperplasia patients admitted to our hospital from 1988 to 2012 were retrospectively analyzed. The patients were followed up. Results Of the 45 patients at the age of 16.8±10.0 years,11 were males and 34 were females. 21-hydroxylase deficiency was diagnosed in 29 patients, 17α-hydroxylase deficiency in 13 patients, and 11β-hydroxylase deficiency in 3 patients. The clinical manifestations of 21-hydroxylase deficiency were clitoral hypertrophy, pigmentation, male secondary sexual development genital malformation, sexual precocity, nausea and vomiting. The clinical manifestations of 17 α-hydroxylase deficiency were hypertension, feminization sexual infantilism, and pigmentation. The clinical manifestations of 11β-hydroxylase deficiency were hypokalemia, hypertension, sexual precocity, pigmentation, and genital deformities. The patients received hormone replacement therapy and some patients underwent external genital organ orthomorphia, or artificial periodic therapy if necessary. Twelve patients were followed up, during which their sexual character development was significantly improved. Conclusion Congenital adrenal hyperplasia should be diagnosed according to its general clinical manifestations, biochemical indexes and adrenal CT scanning. Early diagnosis and systematic therapy can significantly improve its outcome and the life quality of congenital adrenal hyperplasia patients.