{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,17]],"date-time":"2025-11-17T14:29:42Z","timestamp":1763389782483,"version":"3.41.2"},"reference-count":15,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T00:00:00Z","timestamp":1708646400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema. Metabolic bone disorder clinical exome screening (limited panel of metabolic bone disorders and gastrointestinal disorders) was undertaken and revealed a class 4 likely pathogenic variant in the LRP5 gene known to cause osteoporosis. Optimal treatment for patients with this variant is not well defined. A literature review of the condition and potential treatment options is discussed.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae021","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T17:40:22Z","timestamp":1708710022000},"source":"Crossref","is-referenced-by-count":4,"title":["Severe Osteoporosis With Pathogenic <i>LRP5<\/i> Variant"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8428-6541","authenticated-orcid":false,"given":"Felicity","family":"Stringer","sequence":"first","affiliation":[{"name":"Department of Endocrinology, St Vincent's Hospital Melbourne , Fitzroy, Melbourne, VIC 3065 , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie A","family":"Sims","sequence":"additional","affiliation":[{"name":"St Vincent's Institute of Medical Research , Fitzroy, Melbourne, VIC 3065 , Australia"},{"name":"Melbourne Medical School, The University of Melbourne , Parkville, VIC 3052 , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5074-0846","authenticated-orcid":false,"given":"Nirupa","family":"Sachithanandan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, St Vincent's Hospital Melbourne , Fitzroy, Melbourne, VIC 3065 , Australia"},{"name":"Melbourne Medical School, The University of Melbourne , Parkville, VIC 3052 , Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasna","family":"Aleksova","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, St Vincent's Hospital Melbourne , Fitzroy, Melbourne, VIC 3065 , Australia"},{"name":"Department of Medicine, Monash University , Clayton, VIC 3168 , Australia"},{"name":"Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research , Clayton, VIC 3168 , 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