2019 Volume 112 Issue 6 Pages 359-363
HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. Herein, we present a case of HDR syndrome caused by a GATA3 mutation.
A 12-year-old girl presented with congenital bilateral sensorineural hearing loss. She had presented to our hospital in early childhood for assessment of her hearing ability. Conditioned orientation response audiometry and auditory brainstem response examination had demonstrated bilateral moderate sensorineural hearing loss at the age of 6 months. She received bilateral hearing aids after the diagnosis. She presented with cramping pain in her hands and legs after the age of 8 years. Physical examination revealed signs of hypoparathyroidism. Her father also presented with cramping pain in his hands and legs, and was diagnosed as having hypoparathyroidism. His hearing examination demonstrated bilateral hearing loss. On the basis of these findings, the girl and her father were suspected as having HDR syndrome. Mutation analysis revealed a heterozygous nonsense mutation in the GATA3 gene, which confirmed the diagnosis of HDR syndrome in both the girl and her father.
We analyzed her hearing ability from 4 to 12 years of age, which revealed that her hearing loss progressed with age. The average annual threshold deterioration was 1.3 dB/year until the 10 years of age and 8.3 dB/year after the age of 10 years. These results indicate that subjects with HDR syndrome may show progressive sensorineural hearing loss in childhood, especially after 10 years of age.
