Turner Syndrome: Updating the Paradigm of Clinical Care

Context: Turner syndrome (TS), in which there is loss of all or part of one sex chromosome, occurs in one in 2500 live-born females and is associated with characteristic findings. Detailed healthcare checklists and screening guidelines are commonly used to detect known complications affecting individuals with TS. Even with the use of these guidelines, there remains an increased morbidity and mortality seen in TS as compared to the general population, leading to significant controversy on optimal management of several aspects of TS. Evidence Acquisition and Synthesis: A PubMed search of articles from the past 15 yr identified available studies related to the diagnosis and management of common issues related to TS as well as important historical articles. This review summarizes studies through January 2012 and highlights recent developments. Conclusions: There remain many areas of uncertainty in the diagnosis and management of TS. Generalizations from experience in the care of other conditions in isolation (such as poor growth, follow-up of cardiac disease, or the treatment of ovarian failure) cannot be broadly applied when caring for individuals with TS. Specific differences include treatment of growth failure as early as possible; acquisition of adequate baseline cardiac studies, followed by serial magnetic resonance imaging, targeted to identify findings unique to TS that address the increased risk of aortic dissection; initiation of hormone replacement at the normal age of puberty, preferentially with transdermal estradiol; and detailed patient counseling to explain the long-term health risks commonly associated with this disorder. A revised paradigm of care using a standardized multidisciplinary evaluation, supplementing screening tests as advocated by expert opinion guidelines, can aid clinicians in interpreting the results of diagnostic testing in the context of TS. This approach optimizes medical care for women with TS and may reduce the increased morbidity and mortality currently seen in this population. (J Clin Endocrinol Metab 97: E994-E1003, 2012)