{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T06:53:38Z","timestamp":1761548018660,"version":"build-2065373602"},"reference-count":11,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We present a case of hypercalcemia in a 12-month-old female with Down syndrome. The patient presented with significant weight loss (810\u2005g since her 6-month visit) and severe growth failure (weight 5.8\u2005kg, \u22124.5 SDs). Laboratory evaluation revealed severe hypercalcemia with appropriately suppressed PTH and 1,25-hydroxyvitamin D levels. Renal ultrasound confirmed medullary nephrocalcinosis. After excluding common etiologies, the patient was diagnosed with hypercalcemia of Down syndrome, also termed Abnormal Calcium, Calcinosis, Creatinine in Down syndrome. Treatment with intravenous fluids, calcitonin, and transition to a low-calcium formula (Calcilo XD) normalized serum calcium levels. The patient maintained normal calcium levels on restricted dietary calcium intake for 7 months after discharge. This case adds to the limited literature on this rare but significant association, highlighting the importance of considering hypercalcemia in patients with Down syndrome presenting with growth failure. Although the pathophysiology remains unclear, a hyperabsorptive intestinal mechanism has been proposed. Early recognition and dietary calcium restriction are essential to prevent significant morbidity in affected children.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf244","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T11:46:01Z","timestamp":1758627961000},"source":"Crossref","is-referenced-by-count":0,"title":["Hypercalcemia of Down Syndrome"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-9065-9223","authenticated-orcid":false,"given":"Seth","family":"Lamb","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Children\u2019s Mercy Hospital , Kansas City, MO 64108 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Litao","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Children\u2019s Mercy Hospital , Kansas City, MO 64108 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nasreen","family":"Talib","sequence":"additional","affiliation":[{"name":"Division of General Pediatrics, Department of Pediatrics, Children\u2019s Mercy Hospital , Kansas City, MO 64108 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3978-8491","authenticated-orcid":false,"given":"Jacob","family":"Redel","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Children\u2019s Mercy Hospital , Kansas City, MO 64108 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,10,27]]},"reference":[{"issue":"4","key":"2025102702484816400_luaf244-B1","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1002\/ajmg.a.37001","article-title":"Estimates of the live births, natural losses, and elective terminations with down syndrome in the United States","volume":"167","author":"de Graaf","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2025102702484816400_luaf244-B2","doi-asserted-by":"crossref","first-page":"e2022057010","DOI":"10.1542\/peds.2022-057010","article-title":"Health supervision for children and adolescents with down syndrome","volume":"149","author":"Bull","year":"2022","journal-title":"Pediatrics"},{"issue":"1","key":"2025102702484816400_luaf244-B3","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/BF00858987","article-title":"A toddler with down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure","volume":"9","author":"Proesmans","year":"1995","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"2025102702484816400_luaf244-B4","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/BF00860972","article-title":"Hypercalcemia, hypercalciuria, medullar nephrocalcinosis, and renal insufficiency in a toddler with down syndrome","volume":"9","author":"Andreoli","year":"1995","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"2025102702484816400_luaf244-B5","first-page":"99","article-title":"Trisomy 21 with hypercalcemia, hypercalciuria, medullary calcinosis and renal failure\u2013a syndrome?","volume":"16","author":"Filler","year":"2001","journal-title":"Pediatr Nephrol"},{"issue":"7","key":"2025102702484816400_luaf244-B6","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1136\/jcp.55.7.543","article-title":"Hypercalcaemia in association with trisomy 21 (Down\u2019s syndrome)","volume":"55","author":"Ramage","year":"2002","journal-title":"J Clin Pathol"},{"key":"2025102702484816400_luaf244-B7","doi-asserted-by":"crossref","first-page":"bcr0620080232","DOI":"10.1136\/bcr.06.2008.0232","article-title":"The A, B, C. D of hypercalcaemia in down syndrome","volume":"2009","author":"Tran","year":"2009","journal-title":"BMJ Case Rep"},{"issue":"8","key":"2025102702484816400_luaf244-B8","first-page":"e16827","article-title":"Intractable vomiting in an 11-month-old boy with trisomy 21: a case report on abnormal calcium\/calcinosis\/creatinine in down syndrome","volume":"13","author":"Nguyen","year":"2021","journal-title":"Cureus"},{"issue":"6","key":"2025102702484816400_luaf244-B9","first-page":"e202310306","article-title":"ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics","volume":"122","author":"Feller","year":"2024","journal-title":"Arch Argent Pediatr"},{"issue":"5","key":"2025102702484816400_luaf244-B10","first-page":"432","article-title":"Another toddler with down syndrome, nephrocalcinosis, hypercalcemia, and hypercalciuria","volume":"12","author":"Cobenas","year":"1998","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"2025102702484816400_luaf244-B11","doi-asserted-by":"crossref","first-page":"F419","DOI":"10.1136\/archdischild-2014-306069","article-title":"Severe hypercalcaemia due to subcutaneous fat necrosis: presentation, management and complications","volume":"99","author":"Shumer","year":"2014","journal-title":"Arch Dis Child Fetal Neonatal Ed"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/12\/luaf244\/64952118\/luaf244.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/12\/luaf244\/64952118\/luaf244.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T06:48:53Z","timestamp":1761547733000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luaf244\/8303478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,27]]},"references-count":11,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,10,27]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luaf244","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2025,12]]},"published":{"date-parts":[[2025,10,27]]},"article-number":"luaf244"}}