Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome
| Autor: | Rolf Beetz, Marjolein A.J. van Looij, Rajesh V. Thakker, Lou W. Feenstra, Bert G.A. van Zanten, Hanne Meijers-Heijboer, Paul T. Christie |
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| Přispěvatelé: | Human Genetics, Otorhinolaryngology and Head and Neck Surgery, Clinical Genetics |
| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Physiology Hearing loss Hypoparathyroidism Hearing Loss Sensorineural Otoacoustic Emissions Spontaneous GATA3 Transcription Factor Audiology Speech and Hearing medicine otorhinolaryngologic diseases Evoked Potentials Auditory Brain Stem Humans Multicystic Dysplastic Kidney medicine.diagnostic_test business.industry GATA3 Auditory Threshold Syndrome medicine.disease Renal dysplasia Sensory Systems Auditory brainstem response Phenotype Otorhinolaryngology Audiometry Pure-Tone Sensorineural hearing loss Female Pure tone audiometry Audiometry medicine.symptom business Audiometry Speech Noise |
| Zdroj: | Audiology & neuro-otology, 11(6), 373-379. S. Karger AG Audiology and Neuro-Otology, 11, 373-379. Karger |
| ISSN: | 1420-3030 |
| Popis: | Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in human HDR patients and compare these to audiometrical and histological data previously described in a mouse model of this disease. Pure tone audiometry, speech audiometry, speech in noise, auditory brainstem responses and transiently evoked otoacoustic emissions were measured in 2 patients affected by HDR syndrome. Both patients were affected by a moderate-to-severe sensorineural hearing loss. Speech reception thresholds were shifted and speech recognition in noise was disturbed. No otoacoustic emissions could be generated in either patient. Auditory brainstem response interpeak intervals were normal. The human and murine audiological phenotypes seem to correspond well. Hearing loss in HDR syndrome is moderate to severe, seems to be slightly worse at the higher end of the frequency spectrum and may be progressive with age. The absence of otoacoustic emissions and the loss of frequency selectivity suggest an important role for outer hair cells in causing the hearing loss. |
| Databáze: | OpenAIRE |
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