Turner Syndrome

August 15, 2010 by David Mayer

Turner Syndrome

Turner Syndrome is a genetic condition affecting between 1 in 1800 and 1 and 5000 girls and women. It is estimated that 3% of female embryos are affected, but few survive to full term. The syndrome affects the 23rd pair of chromosomes, and involves the complete or partial absence of the second sex chromosome. Turner Syndrome is the most prevalent sex chromosome disorder in Canada, currently affecting 6000 Canadian girls and women.

CHARACTERISTICS OF TURNER PATIENTS

Quite often, women who have Turner Syndrome are short, with an average height of 144cm. They often have heart malformations generally affecting the left side of the heart, which can be quite serious in 20-45% of cases; kidney malformations occur in 30-60% of cases; hypothyroidism in 10-30% of cases; gastrointestinal problems (celiac disease, Crohn’s disease, ulcerative colitis, or intestinal bleeding), sterility in 98% of cases, and a higher rate of osteoporosis, diabetes, and obesity than the general population. Some are born with congenital glaucoma, and one third of girls between the ages of 6 months and 7 years have strabismus.

EFFECTS ON HEARING

Turner Syndrome affects all parts of the ear.

External Ear: The ear canal is often straight with a descending slope. The outer ears themselves may be low-set and not identical.

Middle Ear: Because of an anatomical malformation at the base of the skull which affects the Eustachian tube, middle ear infections are a frequent occurrence, and the eardrum may be in a retracted position. Turner Syndrome also predisposes affected individuals to developing cholesteatomas (small tumours).

Inner Ear: Early, progressive outer hair cell damage starts between 7 and 10 years of age, and affects either the mid-frequencies (a notch centered in the 1 -2 kHz range, present in ½ of adults with Turner Syndrome), or the high frequencies (8kHz).

In more than 25% of women who have Turner Syndrome, the hearing loss is extensive enough to necessitate the use of hearing aids by their mid-40s (in some cases, hearing aids are required from the age of 6).

Turner Syndrome Task Force guidelines recommend a hearing examination upon first diagnosis of Turner Syndrome, as well as annual follow-up hearing assessments for those who have a hearing loss, and, hearing assessments every 2-3 years for those who do not have a previously diagnosed hearing loss.

Appropriate treatment of childhood ear infections reduces the risk of hearing damage.

In summary, women affected by Turner Syndrome are at high risk of developing hearing difficulties and should seek regular assessments from hearing healthcare professionals. Don’t hesitate to consult them!

References :
Association du syndrome de Turner du Québec : www.syndrometurnerquebec.com
BONDY, Caroline A. (2007), « Care of girls and women with Turner syndrome : A guideline of the Turner syndrome study group », The Journal of Clinical Endocrinology & Metabolism, janvier 2007, 92(1), p. 10 à 25.
SAENGER, Paul (2009), « Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis) », UpToDate, p. 23
SAENGER, Paul (2010), « Management of Turner syndrome (gonadal dysgenesis) », UpToDate, p. 21
Turner Syndrome Society of Canada : www.turnersyndrome.ca