{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:40Z","timestamp":1787014000416,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T00:00:00Z","timestamp":1423180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,6]]},"abstract":"Summary<\/jats:title>\n \n Background\/Objectives<\/jats:title>\n Congenital hypopituitarism is a rare disease which, for most patients, has no identified molecular cause. We aimed to document the molecular basis of growth retardation in a Moroccan cohort.<\/jats:p>\n <\/jats:sec>\n \n Design\/Patients<\/jats:title>\n \n 80 index cases [54 with isolated growth hormone deficiency (\n IGHD<\/jats:styled-content>\n ), 26 with combined pituitary hormone deficiency (\n CPHD<\/jats:styled-content>\n )] were screened for molecular defects in\n \n GH<\/jats:styled-content>\n 1\n <\/jats:italic>\n (including\n \n LCR<\/jats:styled-content>\n \u2010\n GH<\/jats:styled-content>\n 1)\n <\/jats:italic>\n ,\n \n GHRHR<\/jats:styled-content>\n <\/jats:italic>\n ,\n \n GHSR<\/jats:styled-content>\n <\/jats:italic>\n ,\n \n GHRH<\/jats:styled-content>\n <\/jats:italic>\n ,\n \n PROP<\/jats:styled-content>\n 1\n <\/jats:italic>\n ,\n \n POU<\/jats:styled-content>\n 1F1\n <\/jats:italic>\n ,\n \n HESX<\/jats:styled-content>\n 1\n <\/jats:italic>\n ,\n \n LHX<\/jats:styled-content>\n 3\n <\/jats:italic>\n ,\n \n LHX<\/jats:styled-content>\n 4\n <\/jats:italic>\n and\n \n SOX<\/jats:styled-content>\n 3\n <\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Five different deleterious mutations were identified in 14 patients from eight families. In the\n IGHD<\/jats:styled-content>\n group, three genes were found to be involved:\n \n GH<\/jats:styled-content>\n 1\n <\/jats:italic>\n ,\n \n GHRHR<\/jats:styled-content>\n <\/jats:italic>\n and\n \n GHSR<\/jats:styled-content>\n <\/jats:italic>\n . In the\n CPHD<\/jats:styled-content>\n group,\n \n PROP<\/jats:styled-content>\n 1\n <\/jats:italic>\n was the only mutated gene. In addition, two heterozygous variations whose deleterious effect remains to be demonstrated were identified (in\n \n GH<\/jats:styled-content>\n 1\n <\/jats:italic>\n and\n \n LHX<\/jats:styled-content>\n 4\n <\/jats:italic>\n ), and two polymorphisms (missense variations) were detected (in\n \n LHX<\/jats:styled-content>\n 3\n <\/jats:italic>\n and in\n \n GHSR<\/jats:styled-content>\n <\/jats:italic>\n ). The prevalence of mutations in this Moroccan\n GHD<\/jats:styled-content>\n cohort was 10% (8\/80), 11\u00b71% (6\/54) in the\n IGHD<\/jats:styled-content>\n group and 7\u00b77% (2\/26) in the\n CPHD<\/jats:styled-content>\n group.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This is the first molecular screening of congenital\n GHD<\/jats:styled-content>\n in a Moroccan population and, like other studies, mutations were preferentially identified in familial cases (75%); mutations in genes such as\n \n POU<\/jats:styled-content>\n 1F1\n <\/jats:italic>\n ,\n \n HESX<\/jats:styled-content>\n 1\n <\/jats:italic>\n ,\n \n SOX<\/jats:styled-content>\n 3\n <\/jats:italic>\n ,\n \n LHX<\/jats:styled-content>\n 3\n <\/jats:italic>\n and\n \n LHX<\/jats:styled-content>\n 4\n <\/jats:italic>\n are extremely rare. The p.R73C\n \n PROP<\/jats:styled-content>\n 1\n <\/jats:italic>\n mutation was the most frequent mutation in\n CPHD<\/jats:styled-content>\n ; this should be the first one to screen in this population. Our results should contribute to a better diagnosis and management of this heterogeneous disease condition.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cen.12706","type":"journal-article","created":{"date-parts":[[2014,12,29]],"date-time":"2014-12-29T22:40:08Z","timestamp":1419892808000},"page":"876-884","source":"Crossref","is-referenced-by-count":18,"title":["Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism"],"prefix":"10.1111","volume":"82","author":[{"given":"Nabila","family":"Fritez","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry\u2010Immunology Faculty of Science Mohammed V University Rabat Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Laure","family":"Sobrier","sequence":"additional","affiliation":[{"name":"Inserm UMRS933 H\u00f4pital Trousseau Paris France"},{"name":"UMRS933 Sorbonne Universit\u00e9s UPMC Univ Paris 06 Paris 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