{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:54:29Z","timestamp":1753890869344,"version":"3.41.2"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"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. Genet."],"abstract":"<jats:p>This article reports a case of a young woman who was admitted to the hospital with \u201csudden convulsions for 3\u00a0h.\u201d She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism\u2013sensorineural deafness\u2013renal dysplasia (HDR) syndrome was established, and the patient was treated with calcium and active vitamin D. After 2\u00a0years of follow-up, her blood calcium levels continued to fluctuate significantly. Subsequently, a heterozygous variant in the <jats:italic>GATA3<\/jats:italic> gene (NM_001002295.2:c.404dup) was detected. According to the literature, patients with HDR syndrome require low doses of active vitamin D supplementation. Excessively high blood calcium levels should be avoided, and treatment should be individualized.<\/jats:p>","DOI":"10.3389\/fgene.2025.1501427","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T05:26:05Z","timestamp":1745299565000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: a case of hypoparathyroidism\u2013sensorineural deafness\u2013renal dysplasia syndrome"],"prefix":"10.3389","volume":"16","author":[{"given":"Jinyan","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjie","family":"Mei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feifei","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhong","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"3389","DOI":"10.1113\/JP277997","article-title":"Gata3 is required for the functional maturation of inner hair cells and their innervation in the mouse cochlea","volume":"597","author":"Bardhan","year":"2019","journal-title":"J. physiology"},{"key":"B2","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1007\/s40618-023-02171-8","article-title":"Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome","volume":"47","author":"Dinoi","year":"2024","journal-title":"J. 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