Treatments for Turner’s Syndrome
Most treatment for Turner syndrome occurs in childhood and adolescent years. Patients will have a pediatric endocrinologist who cares for them. Treatments the endocrinologist would recommend are growth hormone injections, estrogen replacement therapy, surgery when necessary, having an Ear, Nose and Throat specialist when hearing loss is a possibility, and regular health visits.
Treatment for short stature
Growth hormone injections are important for patients with Turner syndrome, because without these injections girls will not be able to grow to their full potential.
Treatment for lack of Estrogen
Estrogen replacement therapy is usually started at a time of normal puberty, around 12 years old to start breast development. Estrogen and progesterone are given a little later to begin a monthly ‘period’, which is necessary to keep the womb healthy. Women with Turner syndrome are sterile; therefore they do not produce their own eggs. However, it is still important for them to maintain a healthy womb because they can use in-vitro fertilization using donated eggs and possibly conceive children. Estrogen is also given to prevent osteoporosis.
Treatment for heart disorder
Baby girls can be born with a bicuspid valve and cortication of the aorta and the only way to treat these heart defects is surgery.
Treatment for Ear Infections
Girls who have Turner syndrome are more likely to get middle ear infections.
An ear infection is defined as inflammation of the middle ear characterized by the accumulation of fluid. An estimated 90% of patients have middle ear infections or conductive hearing loss. There is a 9% incidence for sensorineural hearing loss at a young age, increasing to 25% by age 45.
Sensorineural hearing loss occurs when there is damage to the inner ear (cochlea), or to the nerve pathways from the inner ear to the brain.
Children with Turner syndrome are more likely to have middle ear effusion and/or otitis media (ear infections) because of the abnormal relationship between the Eustachian tube and the middle ear. The Eustachian tube, is shown below, it tube that runs between the inside of the ear and the throat. Its job is to make sure the pressure is the same on either side of the eardrum.
This abnormal relationship causes an abnormal anatomy at the base of the cranium. When girls turn seven or eight years old they need to have increased surveillance for middle ear effusion.
As a result of ear infections, conductive hearing loss is common. Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, eardrum or middle ear. If a child has conductive hearing loss, they should be monitored and have it managed aggressively because the impact of hearing loss is significant on speech and language development.
When there is a persistent ear infection there is a risk for the formation of cholesteatoma (a type of skin cyst in the middle ear).
A type of hearing loss that can also develop is Progressive sensorineural hearing loss (SNHL). This type of hearing loss causes someone not to be able to hear frequencies of 1.5 to 2 KHz and/or 8 KHz as early as age 6. As mentioned above if children has hearing loss or frequent ear infections they can have trouble learning how to develop language and speech. If this progresses and is severe enough, amplification may be recommended. If hearing loss is identified then the girls should see their Ear, Nose and Throat (ENT) specialist to have annual audiological evaluations and follow-up and possibly receive a hearing aid.
Regular health checks are extremely important. There are special clinics in certain areas that specialize in the care of girls and women with Turner syndrome. Early preventive care and treatment is exceptionally important.
Women with Turners are able to live a healthy happy life with these types of treatments and support from family and friends.
Akron Children’s Hospital
National Human Genome Research Institute