{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:37:38Z","timestamp":1762868258917},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,16]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n 3-M syndrome is characterized by severe short stature, syndromic features, and characteristic radiographic findings. Growth hormone (GH) has been used with variable success. Recombinant human insulin like growth factor-1 (rhIGF-1) has never been utilized.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n We describe a child with severe growth retardation, macrocephaly, and skeletal abnormalities with evidence of GH insensitivity subsequently treated with rhIGF-1. He developed morbid obesity and comorbidities including voracious appetite, acanthosis nigricans, tonsillar hypertrophy, and severe obstructive sleep apnea with minimal height improvement. Genetic testing done at 11.5 years revealed a compound heterozygous mutation (c.2112G>A(p.W704X) and c.2559delC) in the CUL<\/jats:italic>7 gene consistent with 3-M syndrome-1. rhIGF-1 therapy was discontinued.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n This case highlights the novel use of rhIGF-1 therapy on a child with 3-M syndrome-1 with minimal height benefit but accelerated weight gain and serves as a reminder of the importance of re-evaluating therapy efficacy and side effect profile.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2020-0278","type":"journal-article","created":{"date-parts":[[2020,8,18]],"date-time":"2020-08-18T08:01:30Z","timestamp":1597737690000},"page":"1609-1612","source":"Crossref","is-referenced-by-count":4,"title":["Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL<\/i>7 gene mutation"],"prefix":"10.1515","volume":"33","author":[{"given":"Ming","family":"Yang","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology , Department of Pediatrics, UT Southwestern Medical Center , Dallas , TX , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nivedita","family":"Patni","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Department of Pediatrics, UT Southwestern Medical Center , Dallas , TX , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,8,17]]},"reference":[{"key":"2023040101094786510_j_jpem-2020-0278_ref_001_w2aab3b7c21b1b6b1ab2b2b1Aa","unstructured":"Miller, JD, McKusick, VA, Malvaux, P, Temtamy, S, Salinas, C. The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser 1975;11:39\u201347. 1218233."},{"key":"2023040101094786510_j_jpem-2020-0278_ref_002_w2aab3b7c21b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Van der Wal, G, Otten, BJ, Brunner, HG, van der Burgt, I. 3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol 2001;10:241\u201352. https:\/\/doi.org\/10.1097\/00019605-200110000-00002.","DOI":"10.1097\/00019605-200110000-00002"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_003_w2aab3b7c21b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Huber, C, Munnich, A, Cormier-Daire, V. The 3M syndrome. Best Pract Res Clin Endocrinol Metabol 2011;25:143\u201351. https:\/\/doi.org\/10.1016\/j.beem.2010.08.015.","DOI":"10.1016\/j.beem.2010.08.015"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_004_w2aab3b7c21b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Meazza, C, Lausch, E, Pagani, S, Bozzola, E, Calcaterra, V, Superti-Furga, A, et al. 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. Ital J Pediatr 2013;39:21. https:\/\/doi.org\/10.1186\/1824-7288-39-21.","DOI":"10.1186\/1824-7288-39-21"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_005_w2aab3b7c21b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Clayton, PE, Hanson, D, Magee, L, Murray, PG, Saunders, E, Abu-Amero, SN, et al. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol 2012;77:335\u201342. https:\/\/doi.org\/10.1111\/j.1365-2265.2012.04428.x.","DOI":"10.1111\/j.1365-2265.2012.04428.x"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_006_w2aab3b7c21b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Deeb, A, Afandi, O, Attia, S, Fatih, AE. 3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. Endocrinol Diabetes Metab Case Rep 2015;15:150012.","DOI":"10.1530\/EDM-15-0012"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_007_w2aab3b7c21b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Hanson, D, Murray, PG, Coulson, T, Sud, A, Omokanye, A, Stratta, E, et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol 2012;49:267\u201375. https:\/\/doi.org\/10.1530\/jme-12-0034.","DOI":"10.1530\/JME-12-0034"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_008_w2aab3b7c21b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"Guler, HP, Zapf, J, Froesch, ER. Short-term metabolic effects of recombinant human insulin-like growth factor I in healthy adults. N Engl J Med 1987;317:137\u201340. https:\/\/doi.org\/10.1056\/nejm198707163170303.","DOI":"10.1056\/NEJM198707163170303"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_009_w2aab3b7c21b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Bang, P, Polak, M, Woelfle, J, Houchard, A. Effectiveness and safety of rhIGF-1 therapy in children: the European Increlex\u00ae growth forum database experience. Horm Res Paediatr 2015;83:345\u201357. https:\/\/doi.org\/10.1159\/000371798.","DOI":"10.1159\/000371798"},{"key":"2023040101094786510_j_jpem-2020-0278_ref_010_w2aab3b7c21b1b6b1ab2b2c10Aa","doi-asserted-by":"crossref","unstructured":"Guevara-Aguirre, J, Rosenbloom, AL, Guevara-Aguirre, M, Saavedra, J, Procel, P. Recommended IGF-I dosage causes greater fat accumulation and osseous maturation than lower dosage and may compromise long-term growth effects. JCEM 2013;98:839\u201345. https:\/\/doi.org\/10.1210\/jc.2012-3704.","DOI":"10.1210\/jc.2012-3704"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/view\/journals\/jpem\/33\/12\/article-p1609.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2020-0278\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2020-0278\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T18:32:16Z","timestamp":1680373936000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2020-0278\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,17]]},"references-count":10,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,10,9]]},"published-print":{"date-parts":[[2020,12,16]]}},"alternative-id":["10.1515\/jpem-2020-0278"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2020-0278","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8,17]]}}}