Hearing Loss in Turner Syndrome

Abstract

A retrospective study was undertaken to answer the following questions: Is the sensorineural hearing loss (SNHL) in Turner syndrome progressive? Can the occurrence of hearing loss be explained by the parental origin of the intact X chromosome? Twenty-four individuals recruited through the Turner Syndrome Society completed a questionnaire and submitted sufficient medical records to determine their otologic status. The majority (21/24) have had problematic otitis media (OM), and two thirds (16/24) have SNHL. In seven of the Turner subjects (age range: 12 to 51 years), gradual progressive SNHL began in late childhood or early adulthood. Molecular techniques showed no correlation between parental origin of the retained X chromosome and hearing status in 17 Turner subjects and at least one of their parents. SNHL and frequent OM appear to be independent variables that are both present in Turner syndrome. It is postulated that the presence of unpaired genes on the X chromosome may account for hearing loss and other phenotypic abnormalities seen in this syndrome.

Oestrogen Deficiency and Growth Hormone Treatment in Childhood Are Not Associated with Hearing in Adults with Turner Syndrome

“…This study confirms previous reports that the predisposition for CHL develops early in life [5, 27], whilst SNHL is progressive through adult life [1, 28]. Consistent with this, we have shown that the prevalence of CHL remains fairly constant through adult life, whilst there is an increase in the prevalence of SNHL.…”

Ear and hearing problems in relation to karyotype in children with Turner syndrome

“…In literature, a history of recurrent middle ear infections is described in 19.6e91% of patients (Anderson et al, 1969;Barrenas et al, 1999;Dhooge et al, 2005;Gawron et al, 2008;Gungor et al, 2000;Hultcrantz et al, 1994;Hultcrantz, 2003;Hultcrantz and Sylven, 1997;Morimoto et al, 2006;Parkin and Walker, 2009;Sculerati et al, 1990Sculerati et al, , 1996Stenberg et al, 1998;Watkin, 1989). Abnormal craniofacial morphology, causing Eustachian tube dysfunction, is suggested as a cause for the recurrent otitis media (Anderson et al, 1969;Gungor et al, 2000;Stenberg et al, 1998).…”

“…TS literature shows great variability in the reported prevalence of SNHL varying from 9 to 66.7% (Anderson et al, 1969;Barrenas et al, 1999;Beckman et al, 2004;Dhooge et al, 2005;Gawron et al, 2008;King et al, 2007;Morimoto et al, 2006;Sculerati et al, 1990Sculerati et al, , 1996Serra et al, 2003;Watkin, 1989). One study even found a high-frequency SNHL in 98.7% of the patients (mean age 20.8 yr, N ¼ 38) (Gungor et al, 2000).…”

Ophthalmological and otological problems in Turner syndrome

“…Excessive otitis media in TS is evident when there is history of myringotomy and tube placement or tympanomastoid surgery, or a medical record documentation of impaired conductive hearing, retraction pocket or cholesteatoma [12]. The conductive losses appear to be secondary to OM and poor Eustachian tube function rather than to any congenital ossicular anomaly.…”

“…The result is that the final development of the facial skeleton reaches a level only corresponding to that of an 11-year-old girl, whereas that of the posterior portion of the cranial base is even less advanced, clinicians have noted [10]. This growth dysregulation at the cranial base is in part due to the absence of growth regulating genes for this area such as SHOX [12,13]. As a consequence, not only is the position of the external auditory meats abnormal, giving the appearance of low set ears, but also the relationship of the middle ear to the Eustachian tube is disturbed.…”