{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T07:57:13Z","timestamp":1790409433760,"version":"4.1.0"},"reference-count":12,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,10,1]]},"abstract":"\n Summary<\/jats:title>\n Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progressive sensorineural deafness since the age of 18 and idiopathic hypoparathyroidism diagnosed at age of 36. Her medical history included osteoporosis with hip\/spine fractures, nephrolithiasis and a family history of hearing loss, osteoporosis and kidney disease. The patient\u2019s clinical presentation indicated Barakat syndrome. Genetic analysis found a GATA3:c.916C>T nonsense variant. Further tests such as audiometry, labs and renal imaging supported the diagnosis. Due to rarity and manifold symptoms, diagnosis can be challenging. Optional GATA3 testing was suggested in 2018, except in cases of isolated sensorineural deafness or renal disease with pertinent family history. In isolated \u2018H\u2019 cases without \u2018D\u2019 and \u2018R\u2019, GATA3 studies are not required, as no haploinsufficiency cases were reported. Given the rise in genetic disorders, physicians should consistently consider rare genetic disorders in patients with suggestive symptoms, even decades after onset. Although diagnosis might not always impact management directly, it aids patients in accepting their condition and has broader family implications.<\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n There is currently an important increase in genetic and clinical characterization of new orphan diseases and their causative agents.<\/jats:p>\n <\/jats:list-item>\n \n Unbiased re-evaluation for possible genetic disorders is necessary at every consultation.<\/jats:p>\n <\/jats:list-item>\n \n It is essential to recognize the differential diagnosis of idiopathic hypoparathyroidism.<\/jats:p>\n <\/jats:list-item>\n \n The patient\u2019s clinical presentation and family history can be important to establish the correct diagnosis.<\/jats:p>\n <\/jats:list-item>\n \n Physicians should not hesitate to search a patient\u2019s signs and symptoms online.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-23-0018","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T06:18:16Z","timestamp":1703053096000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":6,"title":["Barakat syndrome diagnosed decades after initial presentation"],"prefix":"10.1530","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4108-109X","authenticated-orcid":true,"given":"Umberto","family":"Spennato","sequence":"first","affiliation":[{"name":"Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Siegwart","sequence":"additional","affiliation":[{"name":"Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britta","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Institute for Laboratory Medicine, Division Medical Genetics, Cantonal Hospital Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth Julia","family":"Fischer","sequence":"additional","affiliation":[{"name":"Institute for Laboratory Medicine, Division Medical Genetics, Cantonal Hospital Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Bracco","sequence":"additional","affiliation":[{"name":"Institute for Laboratory Medicine, Division Medical Genetics, Cantonal Hospital Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Capraro","sequence":"additional","affiliation":[{"name":"Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Mueller","sequence":"additional","affiliation":[{"name":"Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland"},{"name":"Medical Faculty of the University of Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Schuetz","sequence":"additional","affiliation":[{"name":"Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland"},{"name":"Medical Faculty of the University of Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas Werner","family":"Jehle","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hirslanden Klinik St. Anna, Lucerne, Switzerland"},{"name":"Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tristan","family":"Struja","sequence":"additional","affiliation":[{"name":"Medical University Clinic, Division of Endocrinology, Diabetes, and Metabolism, Cantonal Hospital Aarau, Switzerland"},{"name":"Medical Faculty of the University of Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"American Journal of Medical Genetics","first-page":"1341","article-title":"Barakat syndrome revisited","volume":"176","author":"Barakat","year":"2018","unstructured":"Barakat AJRaygada M & Rennert OM. 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