Genetic Testing Disease Risk Profiling Turner Syndrome

Most people inherit two sets of chromosomes from their parents. Women generally have two X chromosomes, while men have one X and one Y chromosome. Women born with Turner syndrome (TS), however, have only one X chromosome. A range of physical and other challenges arise because of the missing chromosome.

As adults, women with Turner syndrome are faced with genetic discrimination, infertility and a higher than normal risk of diabetes, obesity and osteoporosis. Congenital heart disease is a common symptom of Turner syndrome that may also affect adult life.

Genetic Discrimination

Genetic discrimination often affects women who live with Turner syndrome. Women with Turner syndrome are usually very short (five feet being attainable if they take growth hormones during childhood). They may have broad chests and webbed necks. Women with Turner Syndrome may have drooped eyes or a low hairline (the hair is lower to the shoulders than ‘normal’).

These physical features may be quite noticeable or very subtle, depending on the individual. People may react negatively to the woman’s appearance, impairing her career and social life.

As Turner syndrome can cause serious health problems, including diabetes and heart conditions, women with TS may be denied employment to prevent them from ‘overtaxing’ the company health insurance plan. This type of genetic discrimination is illegal, and can be fought in the courts.

Relationships and Turner Syndrome

Some women with Turner Syndrome experience problems with self-esteem. Some have been raised to believe that they have no hope of a long-term relationship, a belief often reinforced by family members and schoolmates.

Women with TS, however, can and do have stable romantic relationships and marriage. Giving birth isn’t usually an option. Most women with TS are infertile.

Fertility Testing

Turner Syndrome women considering children should undergo fertility testing to evaluate their chances of getting pregnant.

Between two to five percent of women with Turner Syndrome can conceive without fertility testing. Fertility testing may reveal that assisted pregnancy throughin vitro fertilization is possible.

Pregnancy carries serious health risks for women with Turner syndrome, and requires careful monitoring by a team of professionals. Some women with Turner syndrome choose to avoid the risks of a pregnancy. Adoption may be an option, although an adoption agency may be as guilty of genetic discrimination as any other agency.

Turner Syndrome Support Groups

Women with Turner syndrome face challenges that few people can fully comprehend. Many women find that TS support groups offer opportunities to share their concerns, fears and successes. Since the condition is relatively rare, community support groups may be hard to find except in large urban areas. Fortunately, support groups for Turner syndrome are also available online.

Independence and Turner Syndrome

Women with Turner Syndrome may never be completely independent, depending on the severity of health complications and symptoms. This does not, however, mean that women with TS aren’t capable of living independently.

While some people treat TS women like children because of their size, they are adults, regardless of their health problems and height. Like other adults, they are capable of achieving their own dreams and goals, and many do just that. Turner syndrome may affect quality of life, but the women who live with the condition are often quite capable of overcoming the challenges TS brings.


Griffith, A. (n.d.). Turner syndrome: The basics. Retrieved December 12, 2008, from the Turner Syndrome Society of the United States Web site: