ESPE Abstracts (2019) 92 P2-182

Auditory Phenotypes and Dynamics of Hearing Thresholds in 246 Turner Syndrome Females

Tommaso Aversa1, Rocco Bruno2, Simona Santucci1, Maria Francesca Messina1, Emanuela Scarano3, Simona Borrello1, Annamaria Perri3, Margherita Costa3, Celeste Casto1, 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 describe the auditory phenotype and dynamics of hearing thresholds in patients with Turner Syndrome (TS).

Patients and Methods: Cross-section study evaluating the hearing thresholds in 246 TS patients (age range 4-44 yrs). Patients were divided into three age groups: Group 1 (79 TS, age range 4.0-12.9 yrs); Group 2 (109 TS, age range 13.0-25.9 yrs,) and Group 3 (66 TS, age range 26.0-44.9 yrs,). Pure tone audiometry (PTA) with evaluation of frequencies ranging from 250 to 12,000 Hz was assessed to define 5 types of audiograms according to HEAR classification: 1. Increasing (hearing loss at low frequencies); 2. U-shaped or Dip (medium frequency hearing loss HL); 3. "Gentle" slope (hearing loss at high frequencies); 4. "steep" slope (hearing loss at high frequencies); 5. Plate.

Results: 198 (56.1%) TS females presented hearing loss (HL). Percentage of TS HL patients increased with age (Group 1 31.6%, Group 2 37.6%, Group 3 68.2%; P< 0.001). Only in Group 3, ENT remote pathology was more frequently positive in TS with HL (80% vs 42.9%, n=0.003). 80.6% of TS had a slight degree of HL without any significantly difference among the 3 groups (Group 1 92.0%, Group 2 81.6%, Group 3 73.3%; P= n.s.); 32.4% had sensorineural HL (SNHL) that significantly increased with age (Group 1 12.0%, Group 2 71.1%, Group 3 95.6%; P<0.001). On the contrary, the prevalence of conductive HL (CHL) significantly decreased with age (Group 1 88.0%, Group 2 28.9%, Group 3 4.4%; P<0.001). Type 5 was the more frequent audiogram documented (34.2%), followed by types 2 (28.7%) and 3 (18,5%). Types 1 (6.5%) and 4 (12%) were rarer. Only the frequency of type 5 audiogram significantly decreased with age (Group 1 60.0%, Group 2 31.6%; Group 3 22.2%; P<0.001).

The univariate and multivariate logistic regression analyses demonstrated that age (Odds 1.62) and a positive ENT remote pathology (Odds 2.007) were significant predictors of deterioration of auditory outcome in TS.

Conclusions: ENT remote pathology and age are predictive factors for HL in TS. SNHL in TS dramatically increased from the age of 13 yrs. Type 5 is the more frequent audiogram in TS under the age of 45.