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

Journal of Pediatric Endocrinology & Metabolism : JPEM
Ching-Ngar HungAlbert Yan-Wo Chan

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.

Citations

Jan 1, 2013·Genes·Marina BakayHakon Hakonarson
Oct 13, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·C StryjeckiD Meyre
Jun 3, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mark A Hilado, Ruvdeep S Randhawa
Dec 17, 2014·Journal of Pediatric Endocrinology & Metabolism : JPEM·Samim ÖzenŞükran Darcan
Jun 25, 2020·Eating and Weight Disorders : EWD·Ana Carolina Proença da FonsecaPedro Hernán Cabello
Nov 17, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·A QasimD Meyre
Mar 6, 2021·Journal of Paediatrics and Child Health·Lara E GravesCharles F Verge
Jun 29, 2021·Frontiers in Endocrinology·Nadan GregoricMagdalena Avbelj Stefanija

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