{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:01:44Z","timestamp":1780444904069,"version":"3.54.1"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,26]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Proopiomelanocortin (POMC) protein, encoded by the<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation:<\/jats:title><jats:p>A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes. She also had a tall stature. Her laboratory assessment showed low cortisol and ACTH concentrations, normal renin and poor response to ACTH stimulation. Genetic testing revealed a novel biallelic mutation in the<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>POMC deficiency results in significant morbidity due to obesity, and it is also a potentially life threatening disease because of adrenal insufficiency. Therefore any suggestive symptom or sign of POMC deficiency warrants detailed investigations.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0064","type":"journal-article","created":{"date-parts":[[2017,9,15]],"date-time":"2017-09-15T10:01:57Z","timestamp":1505469717000},"source":"Crossref","is-referenced-by-count":8,"title":["Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling"],"prefix":"10.1515","volume":"30","author":[{"given":"Elif","family":"Ozsu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Bahm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref71","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ijo.2013.53","article-title":"The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus","volume":"38","year":"2014","journal-title":"Int J Obes (Lond)"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.2337\/db06-0214","article-title":"Heterozygosity for a POMC-null mutation and increased obesity risk in humans","volume":"55","year":"2006","journal-title":"Diabetes"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1111\/j.1365-2133.2012.11060.x","article-title":"Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis","volume":"167","year":"2012","journal-title":"Br J Dermatol"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/nrd3757","article-title":"Leptin revisited: its mechanism of action and potential for treating diabetes","volume":"11","year":"2012","journal-title":"Nat Rev Drug Discov"},{"key":"ref41","first-page":"359","article-title":"Late Diagnosis of POMC Deficiency and in vitro evidence of residual translation from allele with c.-11C>A mutaion","volume":"102","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.2337\/db06-0214","article-title":"Heterozygosity for a POMC-null mutation and increased obesity risk in humans","volume":"55","year":"2006","journal-title":"Diabetes"},{"key":"ref91","first-page":"359","article-title":"Late Diagnosis of POMC Deficiency and in vitro evidence of residual translation from allele with c.-11C>A mutaion","volume":"102","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1111\/j.1365-2133.2012.11060.x","article-title":"Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis","volume":"167","year":"2012","journal-title":"Br J Dermatol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/nrd3757","article-title":"Leptin revisited: its mechanism of action and potential for treating diabetes","volume":"11","year":"2012","journal-title":"Nat Rev Drug Discov"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ijo.2013.53","article-title":"The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus","volume":"38","year":"2014","journal-title":"Int J Obes (Lond)"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2017.30.issue-10\/jpem-2017-0064\/jpem-2017-0064.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0064\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:42:23Z","timestamp":1619055743000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0064\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":10,"journal-issue":{"issue":"10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0064","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,1]]}}}