Endocrine Abstracts

The combination of hypoparathyroidism, sensorineural deafness and renal dysplasia, named HDR syndrome, is a rare disease. Heterozygous abnormalities of GATA3 gene are associated with this syndrome. Here we report a novel heterozygous mutation, c.255_256ins4 (GTGC), in GATA3 gene. A 41-year-old man was diagnosed as having idiopathic hypoparathyroidism and has been treated with 1α-hydroxyvitamin D3 and calcium carbonate. Three years later, he had a hearing...