{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T16:27:16Z","timestamp":1786724836185,"version":"build-2736575974"},"reference-count":68,"publisher":"The Endocrine Society","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Laron syndrome (LS), caused by defects in the growth hormone receptor gene (GHR), is a rare recessively inherited disease of severe short stature. The number of patients with LS worldwide is so far unknown.<\/jats:p>\n <\/jats:sec>\n \n Aim<\/jats:title>\n This work aimed to determine the reported number of patients with LS, and analyze their geographical distribution, in relation to the repertoire of pathogenic GHR variants.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Using the key words Laron syndrome, GH insensitivity, and GH receptor defects or deficiencies, we searched the following indices: PubMed, SCOPUS, EMBASE, ScienceDirect, Web of Science, Google, and Cochrane Reviews. A total of 801, including references published between the years 1966 and 2025, were reviewed. We generated a list of patients with LS, their geographical distributions, and their pathogenic variants in the GHR gene. Patients cited repeatedly were included only once.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n A total of 840 patients with LS (412 males, 361 females, 67 sex not stated) were identified in 801 publications. The majority of patients are concentrated in East and South Asia, the Mediterranean basin, and South America. A total of 402 patients had a genetic analysis, revealing 109 different genetic defects. The majority of pathogenic variants were in the extracellular domain of the GHR gene with fewer defects identified in the transmembrane or intracellular domains and in introns. Large geographic clusters of patients with LS were associated with one predominant or several different GHR gene defects.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n Review of the scientific literature between 1966 and 2025 revealed 840 patients with LS. Shared ancestors, human migration, and the practice of consanguinity explain the geographic distribution of these patients.<\/jats:p>\n <\/jats:sec>","DOI":"10.1210\/clinem\/dgag253","type":"journal-article","created":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T11:32:08Z","timestamp":1783251128000},"source":"Crossref","is-referenced-by-count":0,"title":["Laron syndrome (growth hormone insensitivity). Geographical distribution and relationship to genetic defects in the growth hormone receptor gene"],"prefix":"10.1210","author":[{"given":"Tal","family":"Rabin","sequence":"first","affiliation":[{"name":"Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center , Petah Tikva 4920235 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Shinar","sequence":"additional","affiliation":[{"name":"Heller Institute of Medical Research, Sheba Medical Center , Ramat Gan 5266202 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-5758","authenticated-orcid":false,"given":"Zvi","family":"Laron","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center , Petah Tikva 4920235 ,","place":["Israel"]},{"name":"Gray Faculty of Medical and Health Sciences, Tel Aviv University , Tel Aviv 6997801 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