{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T17:01:13Z","timestamp":1778432473481,"version":"3.51.4"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0478_abs_001_w2aab3b7c59b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Defects in the IGF-1 receptor gene (<jats:italic>IGF1R<\/jats:italic>) induce IGF-1 resistance, characterized by intrauterine and postnatal growth retardation, normal or elevated serum IGF-1 levels, and feeding problems. Obesity, idiopathic growth hormone deficiency (IGHD), bone age advancement, and serum IGF-1 level in the lower half of the reference range are very rare clinical features in patients with <jats:italic>IGF1R<\/jats:italic> defects.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0478_abs_002_w2aab3b7c59b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>In this study, we report the atypical clinical manifestations of <jats:italic>IGF1R<\/jats:italic> defects. Short stature girl born small for gestational age were initially diagnosed with IGHD. No catch-up growth was achieved despite sufficiently elevated IGF-1 levels after recombinant human growth hormone (rhGH) treatment. Single nucleotide polymorphism microarray analysis finally confirmed terminal deletion of 15q26.2q26.3 in the subject.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0478_abs_003_w2aab3b7c59b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Intrauterine growth retardation, postnatal growth failure, and IGF-1 resistance during rhGH treatment are homologous features exhibited by affected patients, and may be predictive of <jats:italic>IGF1R<\/jats:italic> defects.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0478","type":"journal-article","created":{"date-parts":[[2021,2,16]],"date-time":"2021-02-16T17:14:05Z","timestamp":1613495645000},"page":"255-259","source":"Crossref","is-referenced-by-count":6,"title":["Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report"],"prefix":"10.1515","volume":"34","author":[{"given":"Jong Seo","family":"Yoon","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine , Seoul , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Il Tae","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine , Seoul , Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,1,26]]},"reference":[{"key":"2023040100571176991_j_jpem-2020-0478_ref_001_w2aab3b7c59b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Abuzzahab, MJ, Schneider, A, Goddard, A, Grigorescu, F, Lautier, C, Keller, E, et al.. 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Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. J Clin Endocrinol Metab 2008;93:2421\u20135. https:\/\/doi.org\/10.1210\/jc.2007-1789.","DOI":"10.1210\/jc.2007-1789"},{"key":"2023040100571176991_j_jpem-2020-0478_ref_004_w2aab3b7c59b1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Growth Hormone Research, S. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. J Clin Endocrinol Metab 2000;85:3990\u20133.","DOI":"10.1210\/jc.85.11.3990"},{"key":"2023040100571176991_j_jpem-2020-0478_ref_005_w2aab3b7c59b1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Fang, P, Schwartz, ID, Johnson, BD, Derr, MA, Roberts, CTJr., Hwa, V, et al.. 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