{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:13:41Z","timestamp":1766870021288,"version":"3.40.5"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0538_abs_002\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Laron dwarfism is a rare genetic disorder first reported among Israeli jewish children, subsequently about 350 cases cases have been reported worldwide. We aim to describe the clinical profile of nine children with Laron dwarfism from Institute of Child Health, Chennai.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0538_abs_003\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Analysis of case records from 2010 to 2018.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0538_abs_004\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Male:female ratio is 6:3. Mean age of the children at the time of diagnosis was 3 years. All children were extremely short, and mean height Z score (SD) was\u00a0\u22127.7(0.8). All children had characteristic facies with no hypoglycaemic episodes. Microcephaly was present in four children out of which two had developmental delay. Three out of six boys had micropenis. All children had low insulin like growth factor-1 (IGF-1) and high basal growth hormone (GH) with a mean (SD) of 39.6 (11.2) ng\/mL.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0538_abs_005\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Suspicion of Laron syndrome should be high when child presents with features of Growth Hormone Deficiency (GHD) with extreme stunting.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0538","type":"journal-article","created":{"date-parts":[[2023,3,23]],"date-time":"2023-03-23T21:38:27Z","timestamp":1679607507000},"page":"466-469","source":"Crossref","is-referenced-by-count":1,"title":["Clinical profile of Laron dwarfism\u00a0\u2013 experience from a tertiary care institute in Chennai"],"prefix":"10.1515","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0384-2601","authenticated-orcid":false,"given":"Chidambaram","family":"Sethuraman","sequence":"first","affiliation":[{"name":"Department of Paediatrics , Institute of Child Health and Hospital for Children , Chennai , Tamil Nadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seenivasan","family":"Venkatasamy","sequence":"additional","affiliation":[{"name":"Department of Paediatrics , Institute of Child Health and Hospital for Children , Chennai , Tamil Nadu , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,3,23]]},"reference":[{"key":"2023050204214804471_j_jpem-2022-0538_ref_001","unstructured":"Laron, Z, Pertzelan, A, Mannheimer, S. Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism? Israel J Med Sci 1966;2:152\u20135."},{"key":"2023050204214804471_j_jpem-2022-0538_ref_002","doi-asserted-by":"crossref","unstructured":"Laron, Z. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958\u20132003. J Clin Endocrinol Metab 2004;89:1031\u201344. https:\/\/doi.org\/10.1210\/jc.2003-031033.","DOI":"10.1210\/jc.2003-031033"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_003","doi-asserted-by":"crossref","unstructured":"Chakrabothy, PP, Basu, AK, Mandal, SK, Bandyopadhyay, D. Laron\u2019s syndrome in two siblings. Indian J Pediatr 2007;74:870\u20131. https:\/\/doi.org\/10.1007\/s12098-007-0159-y.","DOI":"10.1007\/s12098-007-0159-y"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_004","doi-asserted-by":"crossref","unstructured":"Phanse-Gupte, SR, Khadilkar, VV, Khadilkar, AV. Clinical features and endocrine profile of Laron syndrome in Indian children. Indian J Endocrinol Metab 18:863\u20137. https:\/\/doi.org\/10.4103\/2230-8210.140236.","DOI":"10.4103\/2230-8210.140236"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_005","doi-asserted-by":"crossref","unstructured":"de Silva, KSH, Arundathi Jayasena, YA. Laron syndrome: a case report. Sri Lanka J Child Health 2011;40:179\u201380. https:\/\/doi.org\/10.4038\/sljch.v40i4.3848.","DOI":"10.4038\/sljch.v40i4.3848"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_006","unstructured":"Kliegman, RM, Behrman, RE, Jenson, HB, Stanton, BF. Growth hormone insensitivity. In: Nelson\u2019s textbook of pediatrics, 20th ed. Philadelphia: Elsevier; 2015, vol, 2:2641 p."},{"key":"2023050204214804471_j_jpem-2022-0538_ref_007","doi-asserted-by":"crossref","unstructured":"Savage, MO, Attie, KM, David, A, Metherell, LA, Clark, AJ, Camacho-H\u00fcbner, C. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Rev Endocrinol 2006;2:395\u2013407. https:\/\/doi.org\/10.1038\/ncpendmet0195.","DOI":"10.1038\/ncpendmet0195"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_008","doi-asserted-by":"crossref","unstructured":"Laron, Z, Lilos, P, Klinger, B. Growth curves for Laron syndrome. Arch Dis Child 1993;68:768\u201370. https:\/\/doi.org\/10.1136\/adc.68.6.768.","DOI":"10.1136\/adc.68.6.768"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_009","doi-asserted-by":"crossref","unstructured":"Burren, CP, Woods, KA, Rose, SJ, Tauber, M, Price, DA, Heinrich, U, et al.. Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome. Horm Res 2001;55:125\u201330. https:\/\/doi.org\/10.1159\/000049983.","DOI":"10.1159\/000049983"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_010","doi-asserted-by":"crossref","unstructured":"Savage, MO, Blum, WF, Ranke, MB, Postel-Vinay, MC, Cotterill, AM, Hall, K, et al.. Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). J Clin Endocrinol Metabol 1993;77:1465\u201371. https:\/\/doi.org\/10.1210\/jc.77.6.1465.","DOI":"10.1210\/jcem.77.6.7505286"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_011","doi-asserted-by":"crossref","unstructured":"Laron, Z, Sarel, R, Pertzelan, A. Puberty in Laron-type dwarfism. Eur J Pediatr 1980;134:79\u201383. https:\/\/doi.org\/10.1007\/bf00442408.","DOI":"10.1007\/BF00442408"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_012","doi-asserted-by":"crossref","unstructured":"Hellstrom, A, Carlsson, B, Niklasson, A, Segnestam, K, Boguszewski, M, de Lacerda, L, et al.. IGF-I is critical for normal vascularization of the human retina. J Clin Endocrinol Metabol 2002;87:3413\u20136. https:\/\/doi.org\/10.1210\/jc.87.7.3413.","DOI":"10.1210\/jcem.87.7.8629"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_013","doi-asserted-by":"crossref","unstructured":"Klinger, B, Ionesco, A, Anin, S, Laron, Z. Effect of insulin-like growth factor I on the thyroid axis in patients with Laron-type dwarfism and healthy subjects. Acta Endocrinol 1992;127:515\u20139. https:\/\/doi.org\/10.1530\/acta.0.1270515.","DOI":"10.1530\/acta.0.1270515"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_014","doi-asserted-by":"crossref","unstructured":"Coutant, R, D\u00f6rr, HG, Gleeson, H, Argente, J. Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol 2012;166:351\u20137. https:\/\/doi.org\/10.1530\/eje-11-0618.","DOI":"10.1530\/EJE-11-0618"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_015","doi-asserted-by":"crossref","unstructured":"Laron, Z. The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. Hormones (Basel) 2008;7:24\u20137. https:\/\/doi.org\/10.14310\/horm.2002.1111034.","DOI":"10.14310\/horm.2002.1111034"},{"key":"2023050204214804471_j_jpem-2022-0538_ref_016","unstructured":"Laron, Z. Consequences of not treating children with Laron syndrome (primary growth hormone insensitivity). J Pediatr Endocrinol Metab 2001;14:1243\u20138."}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0538\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0538\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T04:22:25Z","timestamp":1683001345000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0538\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,23]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3,15]]},"published-print":{"date-parts":[[2023,5,25]]}},"alternative-id":["10.1515\/jpem-2022-0538"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0538","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2023,3,23]]}}}