High frequency of balance abnormalities in Turner syndrome

TL;DR

This study finds that most women with Turner syndrome have balance issues, often involving the inner ear, even when symptoms are not obvious.

Contribution

The study provides new evidence on the high prevalence of subclinical balance abnormalities in Turner syndrome patients.

Findings

78% of Turner syndrome patients aged 15–33 had balance abnormalities.

Balance issues were more often peripheral or combined, not linked to karyotype or hearing loss.

Inner ear involvement was common but often subclinical or compensated.

Abstract

•Most patients with Turner syndrome aged 15–33 years have a balance abnormality.•Balance abnormalities are more frequently peripheral or combined.•Abnormalities were neither associated with karyotype nor with hearing impairment.•The high rate of inner ear involvement is often subclinical or compensated.

Most patients with Turner syndrome aged 15–33 years have a balance abnormality.

Balance abnormalities are more frequently peripheral or combined.

Abnormalities were neither associated with karyotype nor with hearing impairment.

The high rate of inner ear involvement is often subclinical or compensated.

To perform a thorough evaluation of body balance in Turner Syndrome, adding evidence to the already scarce data in literature regarding labyrinth impairment in these patients.

Adolescent and adult patients and a control group of healthy women were subject to otolaryngological, audiological, and vestibular evaluations. The latter included electronystagmography with caloric and rotational testing, cervical vestibular-evoked myogenic potential and static posturography with dynamic tests.

Twenty-seven patients aged 15–33 years (mean: 21.9-years) were evaluated. Karyotype was 45,X in 13/27 cases. Dizziness was reported in eight patients and progressive hearing loss in ten. Audiometry was abnormal in 13/27 cases, six of them sensorineural, six conductive, and one with a mixed pattern. A balance abnormality was found in 21/27 patients (78%). Nineteen patients had vestibular lesion, [12 peripheral (57%), four combined (19%), three central (11%)] and two had only somatosensorial deficit. Non-vestibular abnormalities were found in 6 (22%) patients, five with somatosensorial deficit and one with visual dependence. Balance abnormalities were neither associated with karyotype (45,X vs. other karyotypes) nor with hearing impairment. Control group comprised 20 healthy women aged 27–35 years (mean: 30.5 years); 4/20 (25%) had a balance abnormality, two peripheral and two central causes, a frequency significantly lower than that of TS patients (p < 0.001).

Despite the low frequency of self-reported vestibular and auditory symptoms, this study reveals a high rate of inner ear involvement among women with TS, in which both auditory and vestibular pathways are frequently affected, often in a subclinical or compensated manner. These findings reinforce the importance of comprehensive screening protocols and indicate that appropriate interventions, including vestibular rehabilitation, should be considered as components of clinical follow-up in this population.

4.