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Article: 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

TitleA 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
Authors
Issue Date2012
PublisherFreund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm
Citation
Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25 n. 1-2, p. 175-9 How to Cite?
AbstractProopiomelanocortin (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.
Persistent Identifierhttp://hdl.handle.net/10722/189575
ISSN
2015 Impact Factor: 0.912
2015 SCImago Journal Rankings: 0.493
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorHung, CNen_US
dc.contributor.authorPoon, DWTen_US
dc.contributor.authorLee, CYen_US
dc.contributor.authorLaw, CYen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2013-09-17T14:47:55Z-
dc.date.available2013-09-17T14:47:55Z-
dc.date.issued2012en_US
dc.identifier.citationJournal of Pediatric Endocrinology & Metabolism, 2012, v. 25 n. 1-2, p. 175-9en_US
dc.identifier.issn0334-018Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/189575-
dc.description.abstractProopiomelanocortin (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.en_US
dc.languageengen_US
dc.publisherFreund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htmen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.subject.meshMutationen_US
dc.subject.meshObesity - etiology - geneticsen_US
dc.subject.meshPigmentation Disorders - etiology - geneticsen_US
dc.subject.meshPro-Opiomelanocortin - geneticsen_US
dc.subject.meshSkin Pigmentation - geneticsen_US
dc.titleA case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boyen_US
dc.typeArticleen_US
dc.identifier.emailPoon, DWT: poonwt@hku.hken_US
dc.identifier.emailLaw, CY: ericlaw@pathology.hku.hken_US
dc.identifier.authorityLaw, CY=rp01586en_US
dc.identifier.doi10.1515/JPEM-2011-0437en_US
dc.identifier.pmid22570972en_US
dc.identifier.hkuros221012en_US
dc.identifier.volume25en_US
dc.identifier.issue1-2en_US
dc.identifier.spage175en_US
dc.identifier.epage9en_US
dc.identifier.isiWOS:000305708000029-
dc.publisher.placeIsraelen_US

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