What is Turner syndrome?

Dr. Henry Turner first described Turner syndrome (TS) in the 1930s. TS occurs only in females, affecting one of every 2,000 female newborns. Caused by loss of part or all of one X chromosome in some or all cells of the body, TS is rare. However, it is the most common condition affecting the female sex chromosome. Turner syndrome patients may not show any signs at all; however, some patients do have certain outward and inward signs of the syndrome.

The hallmarks of Turner syndrome are short stature and underdeveloped ovaries. People with this condition may also be predisposed to cardiovascular, kidney, and thyroid problems. Although there is no cure for TS, its symptoms may be minimized with the proper treatment.

References
Lifshitz F, ed. Pediatric Endocrinology. 4th ed. New York, NY: Marcel Dekker Inc; 2003.
Lippe BM, Saenger PH. Turner syndrome. In: Sperling MA, ed. Pediatric Endocrinology. 2nd ed. Philadelphia, PA: Saunders. 2002:519-564.

Saenger P, Wikland KA, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab. 2001;86:3061-3069.

Wilson JD, Foster DW, Kronenberg HM, Larsen PR, eds. Williams Textbook of Endocrinology. 9th ed. Philadelphia, Pa: WB Saunders; 1998.