{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:12:43Z","timestamp":1783930363271,"version":"3.55.0"},"reference-count":18,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T00:00:00Z","timestamp":1783728000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Pediatric-onset metabolic bone diseases, including osteogenesis imperfecta (OI), hypophosphatemic rickets (XLH), hypoparathyroidism, and McCune\u2013Albright syndrome (MAS), require lifelong follow-up because of persistent skeletal fragility, biochemical abnormalities, and functional morbidity extending into adulthood. However, evidence regarding structured transition from pediatric to adult care in these rare disorders remains limited. This study evaluated one-year outcomes of a multidisciplinary transition program for adolescents and young adults with rare metabolic bone diseases. Materials and Methods: This retrospective cohort study included 20 patients aged \u226517 years who underwent evaluation through a structured transition pathway consisting of multidisciplinary team meetings, a joint pediatric\u2013adult transition clinic, and subsequent follow-up in adult endocrinology. Demographic, clinical, treatment, and transition-related data were extracted from medical records. The primary outcome was successful transition, defined as at least one adult endocrinology visit within 12 months. Secondary outcomes included attendance at the transition clinic, follow-up continuity, and treatment modifications. Results: All patients underwent multidisciplinary evaluation, and 85% attended the joint transition clinic. Successful transfer to adult endocrinology was achieved in 90% (18\/20), while regular follow-up during the first year was maintained in 75%. Retention was highest in patients with OI, MAS, XLH, vitamin D-dependent rickets, and DiGeorge syndrome (100%). Greater variability was observed in postoperative and primary hypoparathyroidism. Treatment adjustments were required in 40% of patients, including optimization of phosphate\/calcitriol replacement and reassessment of bisphosphonate or burosumab therapy. Three patients were lost to follow-up. No acute transition-related complications were observed. Conclusions: In this small exploratory cohort, implementation of a structured multidisciplinary transition pathway was feasible and was accompanied by high transfer and one-year retention rates. Observed differences across diagnostic subgroups should be interpreted cautiously, and larger multicenter comparative studies are needed to evaluate the effectiveness of structured transition frameworks.<\/jats:p>","DOI":"10.3390\/medicina62071336","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T07:28:27Z","timestamp":1783927707000},"page":"1336","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Successful Transition in Rare Metabolic Bone Diseases: One-Year Outcomes of a Multidisciplinary Pediatric\u2013Adult Program"],"prefix":"10.3390","volume":"62","author":[{"given":"M\u00fcge","family":"Ya\u015far","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1332-4165","authenticated-orcid":false,"given":"\u00d6zen","family":"\u00d6z G\u00fcl","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3436-9239","authenticated-orcid":false,"given":"Hatice","family":"Nursoy","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3135-9388","authenticated-orcid":false,"given":"Filiz","family":"Mercan Sar\u0131da\u015f","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erhan","family":"Hocao\u011flu","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5205-9539","authenticated-orcid":false,"given":"Kadircan","family":"Karatoprak","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5657-4260","authenticated-orcid":false,"given":"Yasemin","family":"Denkboy \u00d6ngen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1684-1053","authenticated-orcid":false,"given":"Erdal","family":"Eren","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soner","family":"Cander","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canan","family":"Ersoy","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdin\u00e7","family":"Ert\u00fcrk","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, Bursa Uluda\u011f University, 16059 Bursa, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e1134","DOI":"10.1542\/peds.2009-0041","article-title":"Transition to adult care for youths with diabetes mellitus: Findings from a Universal Health Care System","volume":"124","author":"Nakhla","year":"2009","journal-title":"Pediatrics"},{"key":"ref_2","first-page":"132","article-title":"Evaluation of patients\u2019 opinion and metabolic control after transfer of young adults with type 1 diabetes from a pediatric diabetes clinic to adult care","volume":"67","author":"Busse","year":"2007","journal-title":"Horm. Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1016\/j.pedn.2015.05.019","article-title":"A Systematic Review of Transitional Care for Emerging Adults with Diabetes","volume":"30","author":"Findley","year":"2015","journal-title":"J. Pediatr. Nurs."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e1062","DOI":"10.1542\/peds.2012-1450","article-title":"Transition from pediatric to adult care for youth diagnosed with type 1 diabetes in adolescence","volume":"131","author":"Lotstein","year":"2013","journal-title":"Pediatrics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1007\/s12325-019-01174-3","article-title":"Paediatric Metabolic Bone Disease: A Lifetime Ahead","volume":"37","year":"2020","journal-title":"Adv. Ther."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1046\/j.1365-2702.2002.00639.x","article-title":"The transition of adolescents with diabetes from the children\u2019s health care service into the adult health care service: A review of the literature","volume":"11","author":"Fleming","year":"2002","journal-title":"J. Clin. Nurs."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Ross, J., Bowden, M.R., Yu, C., and Diaz-Thomas, A. (2023). Transition of young adults with metabolic bone diseases to adult care. Front. Endocrinol., 14.","DOI":"10.3389\/fendo.2023.1137976"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.beem.2015.03.004","article-title":"Transition to adult endocrine services: What is achievable? the diabetes perspective","volume":"29","author":"White","year":"2015","journal-title":"Best. Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.beem.2015.03.005","article-title":"Transition of adolescents and young adults with endocrine diseases to adult health care","volume":"29","author":"Kapellen","year":"2015","journal-title":"Best. Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1007\/s12098-023-04780-w","article-title":"Transition of Care of Pediatric Patients with Special Needs to Adult Care Settings: Children with Diabetes Mellitus and Other Endocrine Disorders","volume":"90","author":"Singh","year":"2023","journal-title":"Indian J. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1365-2265.2012.04473.x","article-title":"Transition in endocrinology: The challenge of maintaining continuity","volume":"78","author":"Downing","year":"2013","journal-title":"Clin. Endocrinol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e000282","DOI":"10.1136\/lupus-2018-000282","article-title":"Transition and transfer of the patient with paediatric-onset lupus: A practical approach for paediatric and adult rheumatology practices","volume":"5","author":"Sadun","year":"2018","journal-title":"Lupus Sci. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/epi4.12621","article-title":"Transition from pediatric to adult care among patients with epilepsy: Cross-sectional surveys of experts and patients in Korea","volume":"7","author":"Jung","year":"2022","journal-title":"Epilepsia Open"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/s12969-017-0179-8","article-title":"Transitional care for rheumatic conditions in Europe: Current clinical practice and available resources","volume":"15","author":"Clemente","year":"2017","journal-title":"Pediatr. Rheumatol. Online J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1046\/j.1464-5491.2002.00757.x","article-title":"Current methods of transfer of young people with Type 1 diabetes to adult services","volume":"19","author":"Kipps","year":"2002","journal-title":"Diabet. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1016\/S0140-6736(19)30654-3","article-title":"Burosumab versus conventional therapy in children with X-linked hypophosphataemia: A randomised, active-controlled, open-label, phase 3 trial","volume":"393","author":"Imel","year":"2019","journal-title":"Lancet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","article-title":"Burosumab Therapy in Children with X-Linked Hypophosphatemia","volume":"378","author":"Carpenter","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1186\/s13023-023-02856-6","article-title":"Transition of patients with metabolic bone disease from paediatric to adult healthcare services: Current situation and proposals for improvement","volume":"18","author":"Casado","year":"2023","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/62\/7\/1336\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T07:56:37Z","timestamp":1783929397000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/62\/7\/1336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,11]]},"references-count":18,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026,7]]}},"alternative-id":["medicina62071336"],"URL":"https:\/\/doi.org\/10.3390\/medicina62071336","relation":{},"ISSN":["1648-9144"],"issn-type":[{"value":"1648-9144","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,11]]}}}