Objectives: To investigate prognostic markers (age, initial hearing level, karyotype, chronic hormonal therapies, and presence/absence of a mid-frequency dip influence) for hearing loss (HL) in Turner syndrome (TS).
Design: Longitudinal cross-sectional and retrospective study.
Study Population: 61 TS females (age range 4 - 45 yrs), diagnosed by cytogenetic analysis (49,2% monosomy X, 41% mosaicism and 9.8% structural aberration of X chromosome), 90,2% of them treated with growth hormone (GH), 88.5% underwent pubertal induction,78.7% presented positive otolaryngological (ENT) remote anamnesis.
Methods: ENT anamnesis and physical examination, pure tone audiometry (PTA) (frequencies ranging from 0.25 to 12 Hz) were performed. In each patient, at least 2 PTAs were evaluated through 10 years; 1st and 2nd PTAs were performed at median age of 11 yrs (range 4 29) and 26 yrs (range 15-45), respectively. The median follow-up period was 13 yrs (range 10-30).
Results: HL frequency increased from 41 to 59%, sensorineural HL (SNHL) from 18 to 56%, and conductive HL (CHL) from 23 to 36%, from 1st and 2nd PTAs. In young adult patients SNHL, mainly involved the high frequencies, from 8 to 12 kHz. The mid-frequency dip (2-4 kHz), considered as early and predictive sign of future SNHL, had been pointed out only in patients over 12 years (prevalence 16% for worse ear).
Eight TS with CHL at 1st PTA, were normoacusis in the 2nd one.
HL was significantly more common in patients with karyotype 45, X0 (52%) than these with mosaicism (28%) or chromosome X aberrations (20%) (P =0.044).
The logistic regression detected 2 variables that significantly worsen auditory outcomes in TS: GH therapy (Odds 2.5) and a positive ENT remote pathology (Odds 3.0).
The Kaplan-Meier curve confirmed that the risk of HL progressively increased with age; furthermore, a clear increased probability of HL was observed after 15 years of follow-up.
Conclusions: 1) SNHL increased with age; 2) SNHL not always was preceded by a framework of CHL or mid-frequency dip, but it might be preceded by early high frequencies (8-12 kHz) HL; 3) GH therapy and ENT remote pathology resulted significant predictors of HL in TS.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology