Turner syndrome

A condition that affects only girls and women, Turner syndrome is caused by the total or partial absence of one of the two X chromosomes. It causes short stature, infertility and a number of other problems. Learn more about the condition, its diagnosis and the different treatment options available.

Drug treatments can correct delayed growth and ovarian abnormalities:

  • human growth hormone analogs (somatropine) to increase growth rate. Growth hormone treatment is given in the form of an injectable solution and is prescribed by a specialist when not counter-indicated. It is administered up to a bone age of 14 (confirmed by x-ray);
  • hormone replacement therapy, first with estrogen and then with progesterone, to replace the hormones normally produced by the ovaries. Treatment must be started at puberty and continued even after menopause to mitigate the risk of osteoporosis.

Because of the many symptoms associated with Turner syndrome, patients are usually looked after by a multidisciplinary team that includes a pediatrician and/or GP, endocrinologist and gynecologist.
Surgery is also a possibility if the patient has operable heart or kidney complications.

About 1 in 2,500

Affects one infant girl in 2,500

8 to 10

Generally diagnosed late

Last update 13/04/2017