Gonadal dysgenesis: a clinical overview of Turner syndrome

Gonadal dysgenesis is a term used to describe conditions that impair gonadal development leading to varying degrees of gonadal dysfunction and disorders of sexual development. Turner syndrome (TS) affects approximately 1 in every 1,500–2,500 live female births and is characterized by a constellation of symptoms resulting from complete or partial loss of function in the second X chromosome. The diagnosis carries life-long health burdens involving multiple organ systems, hence requires a multidisciplinary care approach. Timely diagnosis is essential to ensure proper management and treatment to lessen the impact of disease burden on affected individuals. Growth, pubertal and sexual development, particularly fertility issues, are considered major concerns that affect one’s lifespan with overall impact on quality of life. Although treatment guidelines and recommendations are in place for TS patients to address comorbid conditions, further data to elucidate on the optimal management are needed, especially in hormone replacement therapy and options for fertility preservation.