Turner syndrome and hearing loss
Parents of girls who don’t appear to be developing at the same rate as their peers and who suffer from frequent ear infections may want to ask their family doctor if she should be tested for Turner syndrome, a rare genetic condition which affects one out of every 2,000 - 4,000 female births. Early diagnosis is key, as those affected have higher incidences of heart, liver and kidney abnormalities, autoimmune disorders, chronic ear infections and hearing loss.
About Turner syndrome
Among the 23 pairs of chromosomes in the human body are two sex chromosomes which differentiate men from women. Men have one X and one Y chromosome in their cells while females have two X chromosomes. When females are missing all or part of the second X chromosome, it can cause a condition known as Turner syndrome. The condition is named after Dr. Henry Turner, who first described the condition in 1938.
This chromosomal condition, which prevents the female body from growing and maturing naturally, can be diagnosed anytime during pregnancy, infancy, late pre-teen or early adolescence. Although each individual is unique, physical characteristics may include short stature, down-turning eyelids, low set and prominent ears, and a small jaw. A blood test is typically used to diagnose the syndrome.
How Turner syndrome affects hearing
According to a study published in the Brazilian Journal of Otolaryngology, those with Turner syndrome have a high prevalence of problems with their hearing and should be evaluated frequently. Common problems include chronic ear infections as well as conductive and sensorineural hearing loss.
Talk to your doctor
If you suspect a female member of your family has Turner syndrome, talk to your family physician. They may refer you to a pediatric endocrinologist for further testing. Additional information and resources about this condition are available at The Turner Syndrome Society of the United States. The organization also has a robust Facebook community where families can post questions, share personal stories and get support.
Even though the chances that your relative has Turner syndrome are low, it’s always a good idea to begin monitoring hearing health at an early age. It all begins with establishing a good rapport with a hearing healthcare professional. To find one you can trust with your family’s hearing health, visit our directory of hearing centers.