Patient 1 (p.R89X mutation and IVS7-27 T>G in the BBS5 gene), a 20-year-old man, had mental retardation (MiniMental State Examination 23; normal >24), rod-cone dystrophy, central obesity (height 158 cm, body weight 63 kg, body-mass index 25.2), and hypogonadism since the age of 5 years. The gene discussed is BBS5; the disease is hypogonadism.