{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:26:19Z","timestamp":1783445179348,"version":"3.54.6"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"7","license":[{"start":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:00:00Z","timestamp":1778544000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0693_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Duplications involving the Fragile X Mental Retardation 1 (\n                      <jats:italic>FMR1<\/jats:italic>\n                      ) gene at Xq27.3\u2013q28 underlie a rare but clinically distinctive genetic syndrome. This report aims to describe the clinical features of a pediatric male patient presenting with morbid obesity, hypogonadism, gynecomastia, short stature, and neurodevelopmental disorders, and to compare the findings with previously reported cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0693_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 17-year-old male presented to our clinic for obesity. He was followed by a child psychiatrist with diagnoses of autism spectrum disorder (ASD), attention-deficit\/hyperactivity disorder (ADHD), and moderate intellectual disability. Physical examination showed morbid obesity, bilateral gynecomastia, and reduced testicular volume. Endocrine evaluation demonstrated hypergonadotropic hypogonadism. Genetic testing identified a 5.5\u202fMb interstitial duplication at Xq27.3\u2013q28 involving\n                      <jats:italic>FMR1<\/jats:italic>\n                      , inherited from his mother.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0693_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This patient represents the youngest living individual with a familial Xq27.3\u2013q28 duplication reported to date. The syndrome resulting from\n                      <jats:italic>FMR1<\/jats:italic>\n                      gene overdosage is characterized by combined neurodevelopmental and endocrine\/metabolic abnormalities.\n                      <jats:italic>FMR1<\/jats:italic>\n                      duplications should be considered in the differential diagnosis of pediatric patients presenting with similar clinical features.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0693","type":"journal-article","created":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:49:46Z","timestamp":1778500186000},"page":"711-715","source":"Crossref","is-referenced-by-count":0,"title":["Xq27.3\u2013q28 duplication involving the\n                    <i>FMR1<\/i>\n                    gene presenting with familial X-linked hypogonadism, gynecomastia, short stature, intellectual disability, and obesity syndrome: a case report and review of the literature"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7116-5828","authenticated-orcid":false,"given":"Mehmet Ali","family":"Oktay","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5921-9846","authenticated-orcid":false,"given":"Elif Tu\u011f\u00e7e","family":"Tunca K\u00fc\u00e7\u00fckali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4286-243X","authenticated-orcid":false,"given":"G\u00fcls\u00fcm","family":"Kayhan","sequence":"additional","affiliation":[{"name":"Department of Genetics , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0802-3955","authenticated-orcid":false,"given":"Esra","family":"D\u00f6\u011fer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1368-2605","authenticated-orcid":false,"given":"Mahmut Orhun","family":"\u00c7amurdan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0302-414X","authenticated-orcid":false,"given":"Aysun","family":"Bideci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,5,12]]},"reference":[{"key":"2026070716574677972_j_jpem-2025-0693_ref_001","doi-asserted-by":"crossref","unstructured":"Vasquez, SB, Hurst, DL, Sotos, JF. 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