ESPE Abstracts (2019) 92 P3-164

Longitudinal Evaluation of Audiological Pattern in Turner Syndrome

Tommaso Aversa1, Rocco Bruno2, Simona Santucci1, Maria Francesca Messina1, Simona Borrello1, Emanuela Scarano3, Annamaria Perri3, Federica Tamburrino3, Mariella Valenzise1, Angela Alibrandi4, Laura Mazzanti3, Malgorzata Wasniewska1

1Pediatric Unit, Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy. 2Otorhinolaryngology Unit, Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy. 3Rare Diseases and Auxological Unit, Department of Pediatrics, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. 4Department of Economics, Unit of Statistics and Mathematical Sciences, University of Messina, Messina, Italy

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.