{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:11:36Z","timestamp":1760058696501,"version":"build-2065373602"},"reference-count":25,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"publisher","award":["GNT1197958"],"award-info":[{"award-number":["GNT1197958"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pathogenic loss-of-function variants in the plastin-3 gene (PLS3), encoding plastin-3 protein, are associated with early-onset X-linked osteoporosis. We present the case of a young adult male patient, with a history of multiple fragility fractures and blue sclerae, who was clinically diagnosed with osteogenesis imperfecta (OI) type 1 in childhood. He has been managed with intravenous bisphosphonate therapy, leading to an increase in bone density at the spine, stable bone density at the femoral neck, and a period free of fractures while on antiresorptive therapy. Two decades later, with a focus on reproductive family planning, a novel PLS3 variant was identified on genetic testing. This case report highlights an important role for genetic testing in patients with early-onset osteoporosis or a clinical diagnosis of OI. With the emergence of new targeted therapeutics and advanced reproductive options, such as preimplantation genetic testing, obtaining an accurate molecular diagnosis is key.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf205","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:58:41Z","timestamp":1758794321000},"source":"Crossref","is-referenced-by-count":0,"title":["Targeted Gene Sequencing in a Male Adult Diagnosed With X-Linked Osteoporosis Due to a Novel p.(Arg398Profs*2) <i>PLS3<\/i> Variant"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4001-7400","authenticated-orcid":false,"given":"Sylvia","family":"Ye","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes, Western Health , Melbourne, VIC 3021 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7287-6496","authenticated-orcid":false,"given":"Tashunka","family":"Taylor-Miller","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, The Royal Melbourne Hospital , Melbourne, VIC 3050 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian","family":"Grill","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Western Health , Melbourne, VIC 3021 ,","place":["Australia"]},{"name":"Department of Medicine, The University of Melbourne , Melbourne, VIC 3021 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter R","family":"Ebeling","sequence":"additional","affiliation":[{"name":"Department of Medicine, School of Clinical Sciences, Monash University , Clayton, VIC 3800 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanh H","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Western Health , Melbourne, VIC 3021 ,","place":["Australia"]},{"name":"Department of Medicine, The University of Melbourne , Melbourne, VIC 3021 ,","place":["Australia"]},{"name":"Department of Medicine, School of Clinical Sciences, Monash University , Clayton, VIC 3800 ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"issue":"4","key":"2025100913161670700_luaf205-B1","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.jocd.2019.07.001","article-title":"Executive summary of the 2019 ISCD position development conference on monitoring treatment, DXA cross-calibration and least significant change, spinal cord injury, peri-prosthetic and orthopedic bone health, 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