Endocrine Abstracts

Introduction

Turner Syndrome is a relatively rare genetic disorder related to the total or partial absence of an X chromosome. Its clinical presentation is very heterogeneous. It can be associated with several organic abnormalities, including hearing disorders. The objective of our work is to study the prevalence of otologic abnormalities in our Turner patients.

Material and method

This is a retrospective descriptive study involving 17 patients followed for Turner syndrome in the Endocrinology-Diabetology and Nutrition Department of the Mohammed VI University Hospital Center of Oujda, Morocco. All patients were evaluated by otologic examination and audiometry.

Results

The mean age of diagnosis was 16.4 ± 12.4 years [3–41 years]. Thirty-five percent of patients were diagnosed in adulthood. The reason for consultation was dominated by short stature in 47% of cases. Twenty three percent of patients had recurring ear infections. One patient had an atelectasic otitis with a focal tympanosclerosis benefiting of a trans-tympanic ventilator. The examination found low ear implantation in 76.4% of the cases with detached ears in 29.4%. Conductive hearing loss was reported in 23.5% of cases, and mixed hearing loss in 11.7%. These otologic abnormalities were present in 55.5% of cases in patients with X monosomy, in 44.4% of cases in patients with mosaic of which 22.2% had an Xi isochromosome.

Discussion-conclusion

Otologic abnormalities are common in Turnerian patients, especially those with X monosomy. Sometimes patients may be clinically asymptomatic; therefore, screening at diagnosis and regular long term monitoring are recommended to detect middle ear disease and avoid its consequences.