Audiological findings of a patient with H syndrome: case report

Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Diala Hussein, Büşra Altın, Münir Demir Bajin
Formato:	article
Lenguaje:	EN
Publicado:	SpringerOpen 2021
Materias:	H syndrome Sensorineural hearing loss Genetic hearing loss Case report Otorhinolaryngology RF1-547
Acceso en línea:	https://doaj.org/article/1eeb8231cc54408baae4b892a3718c38
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:1eeb8231cc54408baae4b892a3718c38
record_format	dspace
spelling	oai:doaj.org-article:1eeb8231cc54408baae4b892a3718c382021-12-05T12:05:29ZAudiological findings of a patient with H syndrome: case report10.1186/s43163-021-00185-81012-55742090-8539https://doaj.org/article/1eeb8231cc54408baae4b892a3718c382021-12-01T00:00:00Zhttps://doi.org/10.1186/s43163-021-00185-8https://doaj.org/toc/1012-5574https://doaj.org/toc/2090-8539Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among otologists, audiologists, and pediatricians about this syndrome and its audiological features. Case presentation An 8-year-old male with a diagnosed H syndrome registered to our clinic with a complaint of hearing loss. The patient was diagnosed with hearing loss in a different clinic using only the air-conducted click auditory brainstem response test which showed wave V at 60 dB nHL for the right ear and at 80 dB nHL for the left ear. The initially performed pure tone audiometry (PTA) test in our clinic revealed a bilateral asymmetric hearing loss with a moderate sensorineural hearing loss in the right ear and a profound mixed hearing loss in the left ear. The performed air conducted click auditory brainstem response (ABR) result showed wave V at 55 dB nHL for the right ear and at 70 dB nHL for the left ear. Then, the repeated PTA test revealed a mild-severe sensorineural sloping hearing loss in the right ear and a severe sensorineural hearing loss in the left ear. Conclusion Although hearing thresholds in H syndrome could be within normal limits in some patients, sensorineural hearing loss is an important characteristic feature for this syndrome. Sensorineural hearing loss could be progressive or of sudden onset and ranges from mild to profound. Thus, it must be taken into consideration to apply the audiological follow-up regularly and paying attention to the patient’s complaints; also, a regular follow-up for language development of children with H syndrome and for the hearing aids is advised.Diala HusseinBüşra AltınMünir Demir BajinSpringerOpenarticleH syndromeSensorineural hearing lossGenetic hearing lossCase reportOtorhinolaryngologyRF1-547ENThe Egyptian Journal of Otolaryngology, Vol 37, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	H syndrome Sensorineural hearing loss Genetic hearing loss Case report Otorhinolaryngology RF1-547
spellingShingle	H syndrome Sensorineural hearing loss Genetic hearing loss Case report Otorhinolaryngology RF1-547 Diala Hussein Büşra Altın Münir Demir Bajin Audiological findings of a patient with H syndrome: case report
description	Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among otologists, audiologists, and pediatricians about this syndrome and its audiological features. Case presentation An 8-year-old male with a diagnosed H syndrome registered to our clinic with a complaint of hearing loss. The patient was diagnosed with hearing loss in a different clinic using only the air-conducted click auditory brainstem response test which showed wave V at 60 dB nHL for the right ear and at 80 dB nHL for the left ear. The initially performed pure tone audiometry (PTA) test in our clinic revealed a bilateral asymmetric hearing loss with a moderate sensorineural hearing loss in the right ear and a profound mixed hearing loss in the left ear. The performed air conducted click auditory brainstem response (ABR) result showed wave V at 55 dB nHL for the right ear and at 70 dB nHL for the left ear. Then, the repeated PTA test revealed a mild-severe sensorineural sloping hearing loss in the right ear and a severe sensorineural hearing loss in the left ear. Conclusion Although hearing thresholds in H syndrome could be within normal limits in some patients, sensorineural hearing loss is an important characteristic feature for this syndrome. Sensorineural hearing loss could be progressive or of sudden onset and ranges from mild to profound. Thus, it must be taken into consideration to apply the audiological follow-up regularly and paying attention to the patient’s complaints; also, a regular follow-up for language development of children with H syndrome and for the hearing aids is advised.
format	article
author	Diala Hussein Büşra Altın Münir Demir Bajin
author_facet	Diala Hussein Büşra Altın Münir Demir Bajin
author_sort	Diala Hussein
title	Audiological findings of a patient with H syndrome: case report
title_short	Audiological findings of a patient with H syndrome: case report
title_full	Audiological findings of a patient with H syndrome: case report
title_fullStr	Audiological findings of a patient with H syndrome: case report
title_full_unstemmed	Audiological findings of a patient with H syndrome: case report
title_sort	audiological findings of a patient with h syndrome: case report
publisher	SpringerOpen
publishDate	2021
url	https://doaj.org/article/1eeb8231cc54408baae4b892a3718c38
work_keys_str_mv	AT dialahussein audiologicalfindingsofapatientwithhsyndromecasereport AT busraaltın audiologicalfindingsofapatientwithhsyndromecasereport AT munirdemirbajin audiologicalfindingsofapatientwithhsyndromecasereport
_version_	1718372240515399680

Audiological findings of a patient with H syndrome: case report

Ejemplares similares