{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:30:43Z","timestamp":1786595443463,"version":"build-2736575974"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Osteopetrosis is a rare inherited disorder caused by impaired osteoclast number or function, leading to increased bone density, fractures, neurologic complications, and disturbances in calcium-phosphate homeostasis. This study aimed to describe the endocrine manifestations of childhood osteopetrosis, particularly osteopetrorickets, and to evaluate treatment responses and post-transplant calcium disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively reviewed 17 children diagnosed with osteopetrosis at a single tertiary center between 2015 and 2025. Clinical, biochemical, radiologic, genetic, and treatment data were analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The median age at diagnosis was 14 months (range, 15 days\u2013130 months), and short stature was observed in 13 of 17 patients (76.4%). Ophthalmologic abnormalities were present in 10 patients (58.8%), hearing loss in 7 patients (41.1%), and hepatosplenomegaly in 7 patients (41.1%).\n                      <jats:italic>TCIRG1<\/jats:italic>\n                      was the most frequent mutation, followed by\n                      <jats:italic>CLCN7, TNFSF11, TNFRSF11A<\/jats:italic>\n                      , and\n                      <jats:italic>CA2<\/jats:italic>\n                      . Osteopetrorickets was identified in 13 of 17 patients (76.4%); among these patients, hypocalcemia occurred in 11 of 13, hypophosphatemia in 8 of 13, and vitamin D deficiency in 4 of 13. Generalized osteosclerosis was observed in all patients, whereas classic osteopetrosis-associated radiographic findings, including bone-in-bone appearance, sandwich vertebrae, and Erlenmeyer flask deformity, were identified only in a subset of patients. Hematopoietic stem cell transplantation was performed in 11 of 13 patients with osteopetrorickets. Four of these 11 patients died during the early post-transplant period. Among patients with osteopetrorickets who underwent hematopoietic stem cell transplantation (HSCT) (n=11), seven surviving patients achieved complete resolution of rickets (7\/11, 63.6%), allowing discontinuation of replacement therapy within 15 days to 8 months. Post-transplant hypercalcemia developed in 4 of 13 transplant recipients (30.8%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Osteopetrorickets is a frequent and clinically significant complication of pediatric osteopetrosis. Early recognition of mineral disturbances, genotype-based treatment planning, and close surveillance for rebound hypercalcemia after transplantation are essential to improve outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1854949","type":"journal-article","created":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:24:14Z","timestamp":1786595054000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Osteopetrorickets and calcium homeostasis in children with osteopetrosis: an endocrinological single-center study"],"prefix":"10.3389","volume":"17","author":[{"given":"Ebru","family":"G\u00f6k","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Sar\u0131kaya","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Kara","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U\u011fur","family":"Berber","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00dclk\u00fc G\u00fcl","family":"\u015eiraz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alper","family":"\u00d6zcan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebru","family":"Y\u0131lmaz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekrem","family":"\u00dcnal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]},{"name":"Medical Point Hospital, Pediatric Hematology and Oncology Clinic","place":["Gaziantep, T\u00fcrkiye"]},{"name":"Department of Nursing, School of Health Sciences, Hasan Kalyoncu University","place":["Gaziantep, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Musa","family":"Karak\u00fckc\u00fc","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihal","family":"Hatipo\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Erciyes University, School of Health Sciences","place":["Kayseri, T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra040952","article-title":"Osteopetrosis","volume":"351","author":"Tolar","year":"2004","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2017.04.012","article-title":"Clinical and imaging features of Malignant infantile osteopetrosis","volume":"59","author":"Tfifha","year":"2017","journal-title":"Turk J Pediatr"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-5","article-title":"Osteopetrosis","volume":"4","author":"Stark","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036673","article-title":"Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment","volume":"43","author":"Del Fattore","year":"2006","journal-title":"J Med Genet"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-005-0027-6","article-title":"A clinical and molecular overview of the human osteopetroses","volume":"77","author":"Balemans","year":"2005","journal-title":"Calcif Tissue Int"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.25.2861","article-title":"Albers-Sch\u00f6nberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CLCN7 chloride channel gene","volume":"10","author":"Cleiren","year":"2001","journal-title":"Hum Mol Genet"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0075-4","article-title":"DNA-based diagnosis of Malignant osteopetrosis using a single nucleotide polymorphism microarray","volume":"52","author":"Lam","year":"2007","journal-title":"J Hum Genet"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.3390\/genes13111965","article-title":"Spectrum of skeletal imaging features in osteopetrosis: inheritance pattern and radiological associations","volume":"13","author":"Spinnato","year":"2022","journal-title":"Genes (Basel)"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21447","article-title":"A single-center experience in 20 patients with infantile Malignant osteopetrosis","volume":"84","author":"Mazzolari","year":"2009","journal-title":"Am J Hematol"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1597\/07-203.1","article-title":"Maxillofacial aspects in Malignant osteopetrosis","volume":"46","author":"da Silva Santos","year":"2009","journal-title":"Cleft Palate Craniofac J"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1542\/peds.93.2.247","article-title":"Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural 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The paradox of plenty. 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