We found that 13% (2/15) of women (age 16-50 years) with SRC-1 variants had a history of polycystic ovary syndrome (with hyperandrogenism and hirsutism); this was comparable to severely obese women with MC4R deficiency (9%; 2/22) of comparable BMI. The gene discussed is MC4R; the disease is hyperinsulinemic hypoglycemia, familial, 4.