Middle ear cholesteatoma prevalence in over 3,600 children with Turner Syndrome

To investigate the prevalence of middle ear cholesteatoma in children with Turner syndrome (TS) as compared to the general population using a large database.

The TriNetx Analytics Network, a federated health research network that aggregates the de-identified electronic health record data of over 78 million patients across the United States, was queried for patients 18 years old or younger with TS. Patients in this group with any occurrence of a diagnosed middle ear cholesteatoma were recorded and reported.

Out of 3,682 children 18 years old or younger with diagnosed TS, 1.47% (95% CI: 1.10%-1.91%) had a history of middle ear cholesteatoma. Out of 12,836,624 children 18 years or younger without TS, 0.09% (95% CI: 0.09%-0.09%) had a history of diagnosed middle ear cholesteatoma. The relative risk for middle ear cholesteatoma in children with TS was 16.74 (95% CI: 12.84-21.83). The relative risk for diagnosed cleft palate among children with TS was 8.56 (95% CI: 6.67-10.98) which, because of the Eustachian tube dysfunction in this population, may contribute to the cholesteatoma risk.

The rate of diagnosed middle ear cholesteatoma was found to be 16 times higher in patients with Turner syndrome versus children without Turner syndrome. Of studies examining middle ear cholesteatoma in children with TS, the present study has the largest sample size thus providing reliable evidence for prevalence in this population. Clinical monitoring for cholesteatoma should be especially rigorous and frequent in this population.