The patient received treatment with dexamethasone and estradiol, and 4 months of follow-up showed that both blood pressure and potassium were well controlled.<h4>Conclusions</h4>This is the first Asian case of CAH caused by a homozygous p.R96Q missense mutation in the CYP17A1 gene. The gene discussed is CYP17A1; the disease is congenital adrenal hyperplasia.