{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:31:28Z","timestamp":1787059888548,"version":"build-2736575974"},"reference-count":10,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"vor","delay-in-days":93,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>We report a female Chinese neonate with antenatal rickets and secondary hyperparathyroidism who was found to have novel compound heterozygous TRPV6 variants (c.1160G&amp;gt;A and c.658C&amp;gt;T). She was treated with calcium, phosphate and vitamin D supplementation, achieving full biochemical and radiographic recovery by age two years. The review of all 14 reported cases confirms a consistent phenotype of neonatal secondary hyperparathyroidism with universal parathyroid hormone (PTH) elevation, frequent fractures and respiratory distress. Excellent outcomes are achieved with supplementation. The correlation between vitamin D deficiency and hypocalcaemia in these neonates suggests that maternal vitamin D status may modify disease severity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-25-0192","type":"journal-article","created":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T18:23:21Z","timestamp":1775672601000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["TRPV6-related intrauterine calciopenic rickets: a case report and literature review"],"prefix":"10.1530","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8886-3124","authenticated-orcid":true,"given":"Geoffrey Chek-Fei","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Queenie Wing-Shan","family":"See","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mimi Tin-Yan","family":"Seto","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, Queen Mary Hospital, Hong Kong 3"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2026,4,8]]},"reference":[{"key":"2026081809190321600_bib1","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1016\/j.ajhg.2018.04.006","article-title":"TRPV6 variants interfere with maternal-fetal calcium transport through the placenta and cause transient neonatal hyperparathyroidism","volume":"102","author":"Suzuki","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2026081809190321600_bib2","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ando.2016.04.004","article-title":"Bone metabolism during pregnancy","volume":"77","author":"Salles","year":"2016","journal-title":"Ann Endocrinol"},{"key":"2026081809190321600_bib3","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s43042-024-00537-y","article-title":"Novel TRPV6 variant linked with transient neonatal hyperparathyroidism","volume":"25","author":"Kumar","year":"2024","journal-title":"Egypt J Med Hum Genet"},{"key":"2026081809190321600_bib4","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1002\/ajmg.a.40484","article-title":"TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton","volume":"176","author":"Burren","year":"2018","journal-title":"Am J Med Genet Pt A"},{"key":"2026081809190321600_bib5","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/s12576-020-00761-2","article-title":"Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism","volume":"70","author":"Suzuki","year":"2020","journal-title":"J Physiol Sci"},{"key":"2026081809190321600_bib6","article-title":"Case report of transient neonatal hyperparathyroidism: medically free mother","volume":"12","author":"Almidani","year":"2020","journal-title":"Cureus"},{"key":"2026081809190321600_bib7","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1210\/js.2018-00374","article-title":"TRPV6 gene mutation in a dizygous twin with transient neonatal hyperparathyroidism","volume":"3","author":"Yamashita","year":"2019","journal-title":"J Endocr Soc"},{"key":"2026081809190321600_bib8","doi-asserted-by":"crossref","DOI":"10.1093\/jbmrpl\/ziaf159","article-title":"Transient neonatal hyperparathyroidism caused by a monoallelic TRPV6 dominant negative variant","volume":"10","author":"Lam Shang Leen","year":"2026","journal-title":"JBMR Plus"},{"key":"2026081809190321600_bib9","volume-title":"Calcium Entry Channels in Non-Excitable Cells","author":"Peng","year":"2018"},{"key":"2026081809190321600_bib10","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1007\/s00394-005-0586-3","article-title":"1,25-Dihydroxyvitamin D and 25-hydroxyvitamin D--mediated regulation of TRPV6 (A putative epithelial calcium channel) mRNA expression in Caco-2 cells","volume":"45","author":"Taparia","year":"2006","journal-title":"Eur J Nutr"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2026\/2\/EDM-25-0192.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2026\/2\/EDM-25-0192.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0192\/520015\/edm-25-0192.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article-pdf\/doi\/10.1530\/EDM-25-0192\/520015\/edm-25-0192.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:19:08Z","timestamp":1787059148000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.bioscientifica.com\/edm\/article\/2026\/2\/EDM250192\/77590\/TRPV6-related-intrauterine-calciopenic-rickets-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,1]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,4,1]]}},"URL":"https:\/\/doi.org\/10.1530\/edm-25-0192","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,1]]},"article-number":"EDM250192"}}