early-onset obesity, adrenal insufficiency, and red hair

A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC ge

A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23.

Signs and symptoms

• Adrenocorticotropic hormone deficiency
• Red hair
• Decreased circulating cortisol level
• Obesity
• Cholestasis
• Hypoglycemic seizures
• Polyphagia
• Decreased growth hormone responses to growth hormone-releasing hormone challenge
• Hyperbilirubinemia
• Gonadotropin deficiency

Also known as: POMC deficiency; pro-opiomelanocortin deficiency; proopiomelanocortin deficiency syndrome