title: Ear and hearing problems in relation to karyotype in children with Turner syndrome.
abstract: The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.7-21.2 years) were included in this retrospective study. Medical history and karyotypes were recorded and otologic and audiologic evaluation was performed. A history of recurrent otitis media was reported in 41/60 (68%) children and 3/60 (5%) had suffered from cholesteatoma. Audiometric data in 56 children revealed that normal hearing was only present in 33/112 (29%) ears. All other ears 79/112 (71%) were classified in five different audiometric categories for hearing loss. Hearing thresholds in general appeared to be about 10-11 dB worse in children with a monosomy 45,X or isochromosome (both have a total deletion of the short (p) arm of the X-chromosome) compared to those having a mosaicism or structural anomaly (partial deletion, or total deletion in only a few cells). Our findings support the hypothesis that hearing can be affected by loss of the p-arm of the X-chromosome. It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, PO BOX 9101, 6500 HB Nijmegen, The Netherlands. evaverver@hotmail.com
authors.forename: E J J
authors.initials: EJ
authors.lastname: Verver
authors.forename: K
authors.initials: K
authors.lastname: Freriks
authors.forename: H G X M
authors.initials: HG
authors.lastname: Thomeer
authors.forename: P L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: R J E
authors.initials: RJ
authors.lastname: Pennings
authors.forename: A A E M
authors.initials: AA
authors.lastname: Alfen-van der Velden
authors.forename: H J
authors.initials: HJ
authors.lastname: Timmers
authors.forename: B J
authors.initials: BJ
authors.lastname: Otten
authors.forename: C W R J
authors.initials: CW
authors.lastname: Cremers
authors.forename: H P M
authors.initials: HP
authors.lastname: Kunst
mesh_terms: D000293:Adolescent; D000328:Adult; D001298:Audiology / Q000379:methods; D001299:Audiometry / Q000379:methods; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D004427:Ear Diseases / Q000209:etiology / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006309:Hearing; D006311:Hearing Disorders / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology*