Turner syndrome

The adolescent with Turner syndrome usually enjoys good health, satisfactory school performance, and normal peer relationships. Some girls, however, have medical, developmental, or social problems that need to be addressed in a timely fashion. Newly diagnosed patients require baseline evaluations for cardiovascular, endocrine, gastrointestinal, and audiologic abnormalities. In those with an established diagnosis, routine health supervision requires an expanded and individualized approach that considers the natural history and known risk factors. Multiple medical specialists may need to provide additional diagnostic and treatment services. Primary care physicians also need to be aware of the neurobehavioral and psychosocial complications that may be encountered so that they may be an effective advocate for appropriate academic and psychological interventions. This chapter focuses on the basic science and clinical aspects of Turner syndrome that can serve as a foundation for development of appropriate health supervision strategies.