Genealogical analysis showed that the proband’s cousin on the mother’s side was affected by the obesity, adrenal insufficiency, and red hair syndrome (OMIM 609734) due to a POMC (proopiomelanocortin) deficiency caused by a homozygous ethnic c.-71+1G>A mutation in the regulatory region of the POMC gene (Figure 1). The gene discussed is POMC; the disease is Adrenal insufficiency.