{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:12Z","timestamp":1784557032283,"version":"3.55.0"},"reference-count":11,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7,1]]},"abstract":"\n Summary<\/jats:title>\n \n HDR syndrome is a rare, heterogeneous genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease. The defect in most patients is caused by deletions in chromosome 10p14 or mutations in the\n GATA3<\/jats:italic>\n gene. HDR syndrome is also associated with several atypical features, including eye, skin, neurological, cardiac, gastrointestinal, and urogenital involvement. We report the case of a 27-year-old Caucasian woman with HDR syndrome (\n GATA3<\/jats:italic>\n NM_001002295.1: c.977C>A p. (Thr326Asn)), who presents with multiple atypical associated features. She has also had recurrent benign ovarian cystic teratomas, although it is unclear whether these are related to HDR syndrome, as this has never been reported.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n HDR syndrome is a rare autosomal genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease.<\/jats:p>\n <\/jats:list-item>\n \n It may be associated with atypical features involving various organs, which will require investigation and management.<\/jats:p>\n <\/jats:list-item>\n \n There is a paucity of evidence and guidance on managing hypocalcaemia in HDR syndrome. Given that HDR syndrome causes agenesis rather than a receptor issue, calcium levels should be targeted between 2.0 and 2.2 mmol\/L, similar to the management of hypoparathyroidism caused by surgery or autoimmune disease.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-24-0140","type":"journal-article","created":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T15:18:50Z","timestamp":1757603930000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["A case of HDR syndrome with recurrent matured ovarian teratomas"],"prefix":"10.1530","volume":"2025","author":[{"given":"Ryizan","family":"Nizar","sequence":"first","affiliation":[{"name":"Great Western Hospital, Swindon, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3267-1401","authenticated-orcid":true,"given":"Louise","family":"Sarr","sequence":"additional","affiliation":[{"name":"Great Western Hospital, Swindon, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Saunders","sequence":"additional","affiliation":[{"name":"Great Western Hospital, Swindon, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waleed","family":"Elsayed","sequence":"additional","affiliation":[{"name":"Great Western Hospital, Swindon, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjun","family":"Joshi","sequence":"additional","affiliation":[{"name":"Great Western Hospital, Swindon, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"NORD: Rare Disease Database","article-title":"Barakat syndrome: clinical and mutational spectrum of hypoparathyroidism, deafness and syndrome","unstructured":"Barakat syndrome: clinical and mutational spectrum of hypoparathyroidism, deafness and syndrome. In NORD: Rare Disease Database. NORD. (https:\/\/rarediseases.org\/rare-diseases\/barakat-syndrome\/)"},{"key":"bib2","series-title":"Nephrol Dial Transplant","first-page":"830","article-title":"Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome","volume":"32","author":"Belge H","year":"2017","unstructured":"Belge H\n, \nDahan K\n, \nCambier JF\n, et al.\n Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. Nephrol Dial Transplant 2017 32 830\u2013837. (https:\/\/doi.org\/10.1093\/ndt\/gfw271)"},{"key":"bib4","series-title":"J Med Genet","first-page":"374","article-title":"GATA3 abnormalities and the phenotypic spectrum of HDR syndrome","volume":"38","author":"Muroya K","year":"2001","unstructured":"Muroya K\n, \nHasegawa T\n, \nIto Y\n, et al.\n GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 2001 38 374\u2013380. (https:\/\/doi.org\/10.1136\/jmg.38.6.374)"},{"key":"bib6","series-title":"J Paediatric Ophthalmol Strabismus","first-page":"48","article-title":"Presumed atypical HDR syndrome associated with band keratopathy and pigmentary retinopathy","volume":"47","author":"Kim C","year":"2011","unstructured":"Kim C\n, \nCheong HI\n, \nKim JH\n, et al.\n Presumed atypical HDR syndrome associated with band keratopathy and pigmentary retinopathy. J Paediatric Ophthalmol Strabismus 2011 47 48. (https:\/\/doi.org\/10.3928\/01913913-20090616-08)"},{"key":"bib7","series-title":"J Postgrad Med","first-page":"145","article-title":"A mentally challenged adult with tonic convulsions, dysmorphic face and sebopsoriasis","volume":"52","author":"John M","year":"2006","unstructured":"John M\n, \nSudeep K\n, \nThomas N\n, et al.\n A mentally challenged adult with tonic convulsions, dysmorphic face and sebopsoriasis. J Postgrad Med 2006 52 145\u2013147."},{"key":"bib8","series-title":"Am J Med Genet","first-page":"2329","article-title":"A new case of HDR syndrome with severe female genital tract malformation: comment on \u201cnovel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations\u201d by Hern\u00e1ndez et al","volume":"155A","author":"Moldovan O","year":"2011","unstructured":"Moldovan O\n, \nCarvalho R\n, \nJorge Z\n, et al.\n A new case of HDR syndrome with severe female genital tract malformation: comment on \u201cnovel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations\u201d by Hern\u00e1ndez et al. Am J Med Genet 2011 155A 2329\u20132330. (https:\/\/doi.org\/10.1002\/ajmg.a.34153)"},{"key":"bib9","series-title":"Gynecol Obstet Invest","first-page":"203","article-title":"A possible genetic factor in the pathogenesis of ovarian dermoid cysts","volume":"56","author":"Caspi B","year":"2003","unstructured":"Caspi B\n, \nLerner-Geva L\n, \nDahan M\n, et al.\n A possible genetic factor in the pathogenesis of ovarian dermoid cysts. Gynecol Obstet Invest 2003 56 203\u2013206. (https:\/\/doi.org\/10.1159\/000074755)"},{"key":"bib10","series-title":"Nature","first-page":"419","article-title":"GATA3 haplo-insufficiency causes human HDR syndrome","volume":"406","author":"Van Esch H","year":"2000","unstructured":"Van Esch H\n, \nGroenen P\n, \nNesbit MA\n, et al.\n GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000 406 419\u2013422. (https:\/\/doi.org\/10.1038\/35019088)"},{"key":"bib11","series-title":"UptoDate Topic 99737 Version 18.0","article-title":"Hypoparathyroidism","author":"Goltzman D","year":"2022","unstructured":"Goltzman D\n\n. Hypoparathyroidism. In UptoDate Topic 99737 Version 18.0, 2022."},{"key":"bib3","series-title":"Eur Soc Endocrinol Clin Guideline","first-page":"G1","article-title":"Treatment of chronic hypoparathyroidism in adults","volume":"173","author":"Bollerslev J","year":"2015","unstructured":"Bollerslev J\n, \nRejnmark L\n, \nMarcocci C\n, et al.\n Treatment of chronic hypoparathyroidism in adults. Eur Soc Endocrinol Clin Guideline 2015 173 G1\u2013G20. (https:\/\/doi.org\/10.1530\/EJE-15-0628)"},{"key":"bib12","series-title":"N Engl J Med","first-page":"63","article-title":"Parthenogenic origin of benign ovarian teratomas","volume":"292","author":"Linder D","year":"1975","unstructured":"Linder D\n, \nMcCaw BK\n & \nHecht F\n\n. Parthenogenic origin of benign ovarian teratomas. N Engl J Med 1975 292 63\u201366. (https:\/\/doi.org\/10.1056\/nejm197501092920202)"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2025\/3\/EDM-24-0140.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2025\/3\/EDM-24-0140.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2025\/3\/EDM-24-0140.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:32Z","timestamp":1784555312000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,1]]},"references-count":11,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/edm-24-0140","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,1]]}}}