In brief, P1, who was heterozygous for the p.Pro26ThrfsTer9 mutation (Fig. 5D,J), is a 53 year old woman who developed obesity with severe clinical features of elevated androgenic hormones at 20 years old, leading to diagnosis of non-classical congenital adrenal hyperplasia due to compound heterozygous mutations in the CYP21A2 gene, and treatment with a mean daily dose of prednisolone of 7.5 mg per day from 25 years old. The gene discussed is CYP21A2; the disease is congenital adrenal hyperplasia.