Turner syndrome: narrative review of genetics and clinical aspects of management

Background and Objective: Turner syndrome (TS) is a genetic condition that is associated with a wide array of clinical manifestations including short stature, ovarian failure, autoimmune diseases, cardiovascular disease, osteoporosis, metabolic syndrome and type II diabetes, as well as neurocognitive deficits in some individuals. TS is associated with loss of all or part of the second sex chromosome, and occurs in approximately one in 2,500 live -born females. The diagnosis is often made at birth in those individuals with more specific manifestations of the disorder, however many girls and women are diagnosed later in childhood or adolescence due to mild clinical features. Individuals with TS have increased morbidity and mortality compared to the general population necessitating increased awareness and improvements in clinical care. This narrative review will present an overview of the genetic mechanisms of TS and aspects of clinical management with a focus on four areas: short stature, gonadal failure, cardiovascular disease and neurocognitive deficits. Methods: A literature search of PubMed and Cochrane databases was conducted related to each topic included in this article from September 1, 2021 until the time of submission. Articles were selected by the author with focus on peer -reviewed articles, guidelines, and systematic reviews, and were limited to those in English language. Case reports were excluded. Eighty-four articles were selected for inclusion in this review. Key Content and Findings: In this narrative review, the genetic mechanisms of TS are explored, as well as recent advances in clinical management of four areas including short stature, gonadal failure, cardiovascular disease and neurocognitive deficits. Current clinical care guidelines are discussed, as well as need for further research in some of these areas. TS is a complex disorder necessitating multidisciplinary care. Conclusions: Improvements have been made in our understanding of some aspects of TS, while others have yet to be elucidated and require further research. This review provides an update on the most common aspects of clinical care and recently described genetic mechanisms. Clinical care guidelines for TS are available which recommend life-long surveillance for TS associated problems with screening tests at specific ages, as well as management recommendations for comorbidities.