Otological problems in children with Turner's syndrome
Introduction
Turner's syndrome is defined as a complete or partial absence of the second sex chromosome (45,X) in combination with characteristic physical features (Rosenfeld et al., 1994). It affects at least 1:2000 newborn girls and is therefore one of the most common sex chromosome abnormalities in humans (Nielsen and Wohlert, 1991). The classical features are short stature (less than 150 cm), ovarian insufficiency due to ovarian dysgenesis with failure to enter puberty spontaneously, and infertility. Other associated anomalies are webbing of the neck, high arched palate, low-set ears, micrognathia, low hairline, cubitus valgus, coarctation of the aorta, horseshoe kidney and autoimmune diseases. Turner's syndrome is not associated with mental retardation.
The recommended therapy today in order to augment final height is growth hormone and anabolic steroids. To enter puberty the girls obtain estrogen substitution therapy (Saenger, 1996).
Approximately half of the Turner girls show a total loss of one of the X-chromosomes (45,X) in all cell lines, while the remaining half present a combination of cell lines (mosaicism), where some of the cells display an absent X-chromosome and the other cells have a normal chromosome account or a normal account but one defect X-chromosome. The most common types of mosaicism are 45,X/46,XX and 45,X/46,X,i(Xq) (i=insertion, q=long arm).
When first describing the syndrome which came to bear his name, Henry Turner overlooked the correlation between the chromosomal aberration, otitis media and hearing impairment (Turner, 1938). In the beginning of the 1960s the association between recurrent otitis media, hearing loss and Turner's syndrome was reported (Lindsten, 1963), and it has subsequently been confirmed by later studies (Anderson et al., 1969; Watkin, 1989; Hultcrantz et al., 1994; Sculerati et al., 1990, Sculerati et al., 1996).
The associated hearing impairment has been described as both conductive and sensorineural, indicating both middle and inner ear involvement.
The conductive hearing impairment in childhood is due to repeated attacks of acute otitis media (AOM) and serous otitis media (SOM) and later on to chronic middle ear disease. As many of the Turner girls have low-set ears and a high arched palate, the high incidence of otitis media was thought to be caused by anatomical variations. However, CT scans of the temporal bone have not been able to demonstrate such variations, except for an unusual downward slope of the external auditory canal (Sculerati et al., 1990).
The sensorineural hearing loss has been described as a typical dip or basin-shaped elevation of thresholds in the middle frequencies (Anderson et al., 1969; Watkin, 1989; Sculerati et al., 1990; Hultcrantz et al., 1994) and is related to the karyotype, being most frequently found among women with karyotypes 45,X and 45,X/46,X,i(Xq) (Hultcrantz et al., 1994). Fewer hearing problems are to be expected in adults if no dip is present in childhood as the sensorineural loss appears to be progressive over time (Hultcrantz and Sylvén, 1997).
An early ageing of the ear, with a progressive, sensorineural, high-frequency hearing loss (presbyacusis), is later added to the dip, resulting in a rapid onset of social hearing impairment, often necessitating hearing aids for the patients. Turner women aged 40 have the same hearing capacity as women aged 60 in a normal population (Hultcrantz and Sylvén, 1995).
The aim of this study was to determine the prevalence and age of onset of sensorineural hearing loss, the incidence of AOM and SOM leading to eardrum pathology and hearing impairment in a large group of young girls and teenagers with Turner's syndrome. A possible relation to karyotype was also investigated.
Section snippets
Patients and methods
A nationwide Turner project has been established in Sweden. At each Swedish University Hospital a special Turner Team has been introduced to manage the different problems concerning these patients. Each team consists of an endocrinologist (pediatric and adult), a gynecologist, an otolaryngologist, a plastic surgeon, an ophthalmologist, a genetic counsellor and a psychologist.
All children, with the diagnosis genetically confirmed, are primary managed by a pediatric endocrinologist in the team
Recurrent acute otitis media
As expected, a high prevalence of recurrent AOM was found in the study group. Sixty-one percent (34/56) had a history of recurrent AOM and secretory otitis media and 32% (18/56) had undergone surgical treatment with ventilation tubes (Fig. 3).
Among the girls with the karyotype 45,X/46Xi(Xq) as many as 80% (4/5) had suffered from recurrent AOM, compared to only 43% (6/14) in the group with 45,X/46,XX. Among patients with the classical 45,X karyotype, 65% (22/34) had suffered from periods of
Discussion
This study included 56 girls in the ages of 4–15 and is, to our knowledge, the largest otologic study of Turner girls in this age group.
Conclusions
A high incidence of recurrent AOM was found among the Turner girls with eardrum pathology as a frequent sequelae. The high incidence emphasizes the importance of regular otological check-ups of all girls with Turner's syndrome to establish early diagnosis and provide them with proper otological expertise to minimize the risk of future problems.
The data of this study further confirm that the dip is progressive over time and show that the dip may be present as early as at the age of 6. It is
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