Last Updated: 2009-01-02 12:00:13 -0400 (Reuters Health)

NEW YORK (Reuters Health) - Turner syndrome, the most commonly diagnosed sex chromosome abnormality in women, not only leads to substantial illness but is also raises the risk of death, according to UK researchers.

"This study," lead investigator Dr. Minouk J. Schoemaker told Reuters Health, "shows that mortality in women with Turner syndrome is three-fold higher than in the general population, and that mortality is raised for almost all major causes of death, and throughout adulthood."

Turner syndrome is a genetic condition caused when one of the two X chromosomes that girls normally have is missing. It results in various physical characteristics and incomplete ovaries.

Schoemaker of The Institute of Cancer Research, Sutton, and colleagues studied data on 3,439 women who had been diagnosed with Turner syndrome between 1959 and 2002.

They were followed until the end of 2006, by which time 296 had died. This death rate is three-fold higher than in the general population, as mentioned.

Blood circulation problems accounted for 41 percent of the excess mortality. Other mortality-associated conditions included diabetes, epilepsy, and pneumonia.

Overall, the absolute excess risk of death was greater in older than in younger subjects.

In light of the increased mortality in patients with Turner syndrome, concluded Schoemaker, "these risks need to be considered in clinical follow-up and counseling of patients and their families."

SOURCE: Journal of Clinical Endocrinology and Metabolism, December 2008.

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