Turner Syndrome

Sean Sutton

2/11/13

Turner Syndrome

Turner Syndrome is a cross-cultural genetic disorder that can affect both men and women, although women are more likely to be affected by turner syndrome. Turner syndrome is characterized by short stature and non-functioning ovaries, which leads to impaired pubertal development and infertility. Majority of women with turner syndrome do not present any behavioral or physical attributes different from that of the general population and are likely to live long and healthy lives.

There are two types of turner syndrome, Classic and Mosaic. Classic turner syndrome occurs when one sex chromosome is missing. In mosaic turner syndrome, there is a mix of cells, some with 45 chromosomes, missing an X chromosome or some with all 46 chromosomes, only missing part of the X chromosome. Women are prone to both types of turner syndrome but men are only prone to mosaic turner syndrome because classic turner syndrome results in the failure of ovaries. Due to the non-functioning ovaries in women with classic turner syndrome, classic turner syndrome is not hereditary. The only way for a woman with turner syndrome to have a child is if donor eggs were successfully implanted or if she has mosaic turner syndrome and somehow managed to conceive in the conventional way.

Although it is possible for women with mosaic turner syndrome to give birth, 90 percent of women who conceive a fetus with turner syndrome spontaneously abort during the first trimester. Of the remaining 10%, many fetuses develop a cystic hygroma or hydrops, which may be associated with a broad neck and puffy hands and feet. The most common features to look for

in newborns are webbing of the neck (extra folds of skin), poor feeding, oedematous hands and feet, spoon shaped nails, low set ears, small jaw, high arched palate, low hairline, droopy eyelids, short fourth toe, short fingers, broad chest and widely spaced nipples.