{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:07:52Z","timestamp":1790788072616,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T00:00:00Z","timestamp":1614902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder characterised by adrenocorticotropic hormone (ACTH) deficiency, red hair and hyperphagic obesity. Two unrelated cases presented with hypoglycaemia due to isolated ACTH deficiency in the neonatal period. POMC deficiency was suspected at age 2\u2009years (c.133\u20102A&gt;C) and at age 9 months (c.64del) due to infantile hyperphagic obesity. Neither patient had a convincing red hair phenotype at the time of diagnostic suspicion, illustrating the importance of suspecting POMC deficiency in isolated ACTH deficiency. Both patients have normal psychomotor development, whereas the only other reported case of c.64del had significant delay. This suggests, if ACTH deficiency is treated early in the neonatal period, that psychomotor retardation is not a part of the phenotype. We review 24 reported cases of POMC deficiency published to date. Although there is no current specific treatment for obesity in POMC deficiency, we anticipate that setmelanotide may be a useful future treatment option.<\/jats:p>","DOI":"10.1111\/jpc.15407","type":"journal-article","created":{"date-parts":[[2021,3,5]],"date-time":"2021-03-05T11:15:39Z","timestamp":1614942939000},"page":"484-490","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases"],"prefix":"10.1111","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8476-220X","authenticated-orcid":false,"given":"Lara E.","family":"Graves","sequence":"first","affiliation":[{"name":"Department of Endocrinology Sydney Children's Hospital  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph M.","family":"Khouri","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Liverpool Hospital  Sydney New South Wales Australia"},{"name":"School of Women's and Children's Health University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kristidis","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Wollongong Hospital, Illawarra Shoalhaven Local Health District  Wollongong New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles F.","family":"Verge","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Sydney Children's Hospital  Sydney New South Wales Australia"},{"name":"School of Women's and Children's Health University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,5]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/509"},{"key":"e_1_2_3_3_1","volume-title":"Proopiomelanocortin Deficiency","author":"Challis BG","year":"1993"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ijo.2013.53"},{"key":"e_1_2_3_5_1","first-page":"359","article-title":"Late diagnosis of POMC deficiency and in vitro evidence of residual translation from allele with c.\u201011C>A mutation","volume":"102","author":"Anisimova AS","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0324"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030502"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.4638"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0467"},{"key":"e_1_2_3_10_1","first-page":"493","article-title":"Early\u2010onset severe obesity with ACTH deficiency and red hair in a boy: The POMC deficiency","volume":"23","author":"Ozen S","year":"2012","journal-title":"Genet. Couns."},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.11060.x"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.2337\/db06-0214"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4226"},{"key":"e_1_2_3_14_1","unstructured":"AcarS NalbantogluO KocAet al. eds.A case with central adrenal insufficiency and early onset obesity: Proopiomelanocortin deficiency. Hormone Research in Paediatrics: 58th Annual Meeting of the European Society for Paediatric Endocrinology; 19\u201321 September 2019; Vienna Austria."},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1164"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1687-9856-2011-5"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2011-0437"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1241203"},{"key":"e_1_2_3_19_1","unstructured":"KaygusuzSB YesilG KirkgozT TuranS BereketA GuranT eds.An 18 month old boy with hypoglycemic convulsion and obesity due to POMC deficiency. Hormone Research in Paediatrics: 57th Annual Meeting of the European Society for Paediatric Endocrinology; 2018 27\u201329 September 2018; Athens Greece."},{"key":"e_1_2_3_20_1","unstructured":"Abu\u2010LibdehA Abu\u2010LibdehB eds.Homozygosity for proopiomelanocortin (POMC) mutation in a Palestininan child. Hormone Research in Paediatrics: 58th Annual Meeting of the European Society for Paediatric Endocrinology; 19\u201321 September 2019; Vienna Austria."},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0064"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1043-2760(99)00213-1"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2018.05.008"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2018.12.002"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmet.2017.06.015"},{"key":"e_1_2_3_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2016.07.006"},{"key":"e_1_2_3_27_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1512693"},{"key":"e_1_2_3_28_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4024"},{"key":"e_1_2_3_29_1","volume-title":"Efficacy and Safety of the MC4R Agonist Setmelanotide in POMC Deficiency Obesity: Phase 3 Trial","author":"Kuhnen P","year":"2019"},{"key":"e_1_2_3_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(20)30364-8"}],"container-title":["Journal of Paediatrics and Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jpc.15407","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jpc.15407","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jpc.15407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T05:07:17Z","timestamp":1712120837000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jpc.15407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,5]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1111\/jpc.15407"],"URL":"https:\/\/doi.org\/10.1111\/jpc.15407","archive":["Portico"],"relation":{},"ISSN":["1034-4810","1440-1754"],"issn-type":[{"value":"1034-4810","type":"print"},{"value":"1440-1754","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,5]]},"assertion":[{"value":"2020-09-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}