Turner syndrome.

Introduction Approximately 1 in 2,500 live female births is affected by Turner syndrome (TS), making it one of the more common genetic conditions encountered in pediatric practice. TS is caused by deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome. Multiple body systems can be affected to varying degrees, presenting both diagnostic and management challenges for the pediatrician. In recent years, knowledge and understanding of TS have advanced substantially. Both the American Academy of Pediatrics and the Turner Syndrome Study Group recently published guidelines for the care of girls and women who have TS. (1)(2) These determinations have relied both on peer-reviewed studies and the opinion of experts in the care of individuals who have TS. In this article, we review the multisystem manifestations of TS and the updated guidelines for care of the girls and women affected with this common chromosome abnormality.