Approach to the Patient With Turner Syndrome

Abstract

Turner syndrome is diagnosed in a female individual with partial or complete loss of the second sex chromosome and is reported in 1 in 2000 to 1 in 2500 live births. Common features include short stature and ovarian dysgenesis; subsequent ovarian insufficiency leading to delayed/absent puberty and infertility in the majority. It is associated with increased morbidity and mortality, due to comorbidities occurring throughout the lifespan, including congenital and acquired cardiovascular abnormalities, autoimmune disease, osteoporosis and other skeletal abnormalities, and metabolic dysfunction as well as neurocognitive challenges. Management may involve coordination of several specialties in addition to patient/relative information and support. Treatment with growth hormone during childhood and adolescence and sex hormone replacement therapy forms the cornerstone of medical treatment. Recent review of evidence and development of recommendations inform a practical approach to management with an aim to reduce morbidity and thus improve outcomes in the future.