Ears and Hearing in Turner Syndrome

The ear consists of three parts: the outer ear, the middle ear, and the inner ear. All three of these are affected in those with Turner syndrome.

The outer ear includes the pinna, or auricle, which is the part we see, and the auditory (ear) canal.

While they do not affect hearing, low-set ears, and a wide, short ear canal are common.

The middle ear includes the eardrum, or tympanic membrane, the three middle ear bones, called ossicles, and the eustachian tube.

In girls with TS, recurrent infections of the middle ear, otitis media, are common, starting in infancy and continuing into adolescence, but are less common in young adulthood and beyond.

Some girls and women with TS can have chronic middle ear problems, which might include eardrum perforations, hearing loss, and cholesteatoma.

A cholesteatoma is a cyst that looks like a compact shiny flaky mass—also called a “pearly tumor,” although it is benign and not a tumor. Most commonly found in the middle ear or the mastoid area, they can be congenital (present from birth), or acquired after trauma or infection in the area.

Frequent ear infections and short stature in undiagnosed girls can be a "red flag" that should direct physicians to consider referring her to a pediatric endocrinologist for further investigation.

The inner ear includes the organs of balance and hearing. The tiny bones in the middle ear transmit sound from the eardrum across the middle ear and vibrate against the cochlea. Vibrations in the fluid cause tiny hair cells in the fluid inside the cochlea to vibrate and generate nerve impulses that then travel through the auditory nerve to the brain.

Sensorineural hearing loss is the result of a problem in this inner part of the ear.

How Does Turner Syndrome Affect Hearing?

There are three types of hearing loss that can affect girls and women with Turner syndrome:

Conductive hearing loss

Sensorineural hearing loss

Mixed hearing loss

Recommendations from Clinical Practice Guidelines

A formal audiometric evaluation (hearing test) is recommended every 5 years regardless of the initial age at diagnosis, initial hearing threshold levels, karyotype and/or presence of a mid-frequency sensorineural hearing loss, to assure early and adequate technical and other rehabilitative measures.

The current clinical practice guidelines recommend aggressive treatment of middle-ear disease and otitis media (OM) with antibiotics and placement of myringotomy tubes as indicated.

See Antibiotic Warning

Early recognition, evaluation, and appropriate management of hearing impairment in those with TS are crucial in order to avoid hearing-related speech problems, risk of isolation, depression, and, possibly, dementia.