title: A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy.
abstract: Proopiomelanocortin (POMC) is the polypeptide precursor of several biologically active melanocortin peptides that have important roles in the regulation of food intake and energy homeostasis, adrenal steroidogenesis, melanocyte stimulation, and immune modulation. Mutation of the POMC gene has been associated with adrenal insufficiency, early-onset obesity, and red hair pigmentation. We describe an Indian boy with secondary hypocortisolism, hyperphagia, early-onset obesity, and skin pigmentation problem. Genetics analysis revealed a novel homozygous mutation in the POMC gene (p.Arg86Term). The boy also had central hypothyroidism in addition to the secondary hypocortisolism. Genetics analysis for the POMC gene should be considered in patients with secondary hypocortisolism, early-onset obesity, and pigmentary problems.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong SAR, China. HCN069@ha.org.hk
authors.forename: Ching-Ngar
authors.initials: CN
authors.lastname: Hung
authors.forename: Wing-Tat
authors.initials: WT
authors.lastname: Poon
authors.forename: Ching-Yin
authors.initials: CY
authors.lastname: Lee
authors.forename: Chun-Yiu
authors.initials: CY
authors.lastname: Law
authors.forename: Albert Yan-Wo
authors.initials: AY
authors.lastname: Chan
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D001724:Birth Weight; D002675:Child, Preschool; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology / Q000235:genetics; D008297:Male; D009154:Mutation; D009765:Obesity / Q000209:etiology / Q000235:genetics*; D010859:Pigmentation Disorders / Q000209:etiology / Q000235:genetics*; D011333:Pro-Opiomelanocortin / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D011333:Pro-Opiomelanocortin; D000324:Adrenocorticotropic Hormone