She later underwent karyotyping, ACTH stimulation test and genetic analysis which revealed a 46,XX karyotype, no change in basal serum 17 hydroxyprogesterone level after ACTH administration, and CYP17A1 gene mutation, respectively, thereby effectively diagnosing her as a case of 17‐alpha‐hydroxylase deficiency. The gene discussed is POMC; the disease is hyperinsulinemic hypoglycemia, familial, 4.