Читать книгу Clinical Obesity in Adults and Children - Группа авторов - Страница 83

Several unrelated children with obesity with homozygous or compound heterozygous mutations in POMC have been reported [41]. These children were hyperphagic, developing early‐onset obesity as a result of impaired melanocortin signaling in the hypothalamus. They presented in neonatal life with adrenal crisis due to isolated adrenocorticotropic hormone (ACTH) deficiency (POMC is a precursor of ACTH in the pituitary) and had pale skin and red hair due to the lack of MSH function at melanocortin 1 receptors in the skin, although hypopigmentation may be less obvious in children from different ethnic backgrounds. A number of missense mutations that affect POMC‐derived peptides have been described [42].