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 impairment and revealed sensorineural deafness by audiogram. Renal ultrasonography did not show abnormality in the kidney. His son was also diagnosed with hypoparathyroidism and hearing deafness due to seizure episode at age 12 years. His son’s renal ultrasonography showed right kidney aplasia. DNA analysis was performed in his son. Sequenced analysis identified a novel mutation, c.255_256ins4 (GTGC), in the GATA3 gene. A boy showed classical triad of HDR syndrome. But his father had only two clinical feature of HDR syndrome (hypoparathyroidism and sensorineural deafness), besides he did not complain of a hearing impairment when diagnosed with hypoparathyroidism. Taking into consideration this clinical heterogeneity, screening of GATA3 gene mutations is worthwhile for diagnosis and genetic counseling, when patients have hypoparathyroidism and deafness.