It is caused by the complete or partial deletion of the X chromosome.
The incidence of TS is approximately 1:2000 live female births.
Two main clinical features of TS are short stature and non-functioning ovaries. Diagnosis can be made at birth if, for instance, a newborn needs heart surgery because of coarctation of the aorta or because of oedema of the hands and feet.
Most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.
Girls with TS may have only a few or several of the features associated with TS, but short stature and infertility are nearly always present. The possibility of growth hormone treatment for short stature and IVF for infertility are options now available to those with TS.
The majority of girls and women with TS are healthy, happy and lead normal lives.