Description of Turner Syndrome

Turner syndrome describes females who have partial or complete absence of the second sex chromosome and can present with a variety of phenotypic and genotypic features. This chapter serves to summarize many of these features as well as provide an overview of clinical management guidelines. Incidence and karyotype findings are discussed prior to an overview of phenotype, commenting on skeletal manifestations, ovarian failure, cardiovascular and heart disease, lymphatic obstruction, renal abnormalities, autoimmune diseases, psychological and cognitive implications, and malignancy risk. Many of the topics introduced in this chapter will be described in further detail in subsequent chapters.