A case of HDR syndrome with recurrent matured ovarian teratomas

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 GATA3 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 (GATA3 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.

HDR syndrome is a rare autosomal genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease. It may be associated with atypical features involving various organs, which will require investigation and management. 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.