A family case of HDR syndrome with long-term hearing follow-up

Abstract

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder defined by hypoparathyroidism, sensorineural hearing loss, and renal dysplasia, although all three may not be necessarily present. Sensorineural hearing loss is the most frequent manifestation of HDR syndrome with only a few reports on its auditory course. In this study, we experienced cases of three sisters who were diagnosed with HDR syndrome after being diagnosed with hearing loss in childhood. They each had hypoparathyroidism and sensorineural hearing loss with no renal dysfunction or abnormal renal morphology. The second daughter’s hearing remained unchanged, but the oldest daughter showed a hearing loss progression of 2.1 dB/year and the third daughter 1.8 dB/year. We report the diversity of symptoms of HDR syndrome and the progression of hearing loss in three sisters who were observed over a long time.