Searchable abstracts of presentations at key conferences in endocrinology

ea0094op6.4 | Bone and Calcium | SFEBES2023

HDR syndrome (hypoparathyroidism, deafness and renal dysplasia) Unveiled: A rare cause of profound hypocalcaemia and seizure

Shekar Nitin C. , Kamaruddin Shafie , Chu Guistina , Khan Irfan , Awadelkareem Abuzar

Background: HDR syndrome also known by the eponym Barakat syndrome, is a rare, autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural hearing loss, and renal abnormalities. It is caused due to mutation (haploinsufficiency) in GATA3 gene on chromosome 10p with a wide spectrum of phenotypic variations.Case Presentation: A 33-year-old lady presented to emergency department with an episod...