Turner syndrome is a condition in which a girl or woman is partially or completely missing an X chromosome. It can cause infertility and heart problems and alter a female’s appearance. NICHD plays a leading role in advancing research on Turner syndrome by supporting the investigation of its physical and emotional effects as well as potential therapies.
General Information
Turner syndrome is a disorder caused by a partially or completely missing X chromosome. This condition affects only females.
Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems.
Turner syndrome affects about 1 of every 2,500 female live births worldwide.
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body.
Healthcare providers use a combination of physical symptoms and the results of a genetic blood test, called a karyotype, to determine the chromosomal characteristics of the cells in a female’s body.
Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms, including human growth hormone and estrogen replacement therapy.
Research
NICHD conducts and supports research on Turner syndrome and on many disorders associated with Turner syndrome.
Find a Study
NICHD conducts and supports a variety of clinical research projects related to Turner syndrome.
BACK TO TOP