Endocrinopathies and cardiopathies in patients with Turner syndrome

Ovarian dysgenesis, short stature, and infertility are common features of Turner syndrome (TS). Endocrinopathies and cardiopathies are less common, but may induce significant complications, and are the leading cause of mortality in TS patients. Endocrine abnormality including osteoporosis occurs in up to 60% of patients, hypothyroidism at an incidence of 3.2%, and impaired glucose metabolism with variable incidence depending on the age group. Estrogen therapy and growth hormone therapy, alone or combined, improve height and bone mass in TS patients. Autoimmune hypothyroidism is prone in the X-isochromosome phenotypes in the first and second decades of TS women's life. Type 2 diabetes mellitus resulting from haploinsufficiency of Xp genes and quiescent β-cell autoimmunity occurs with higher frequency in TS patients in different age groups. The prevalence of cardiopathies in TS patients is 23%, with coarctation of aorta and bicuspid aortic valve being the most common cardiovascular malformations. Multidisciplinary and long-term medical healthcare is needed for TS patients. The risks of cardiovascular defects require close ultrasonography monitoring through the patient's lifespan, especially during pregnancy. The goal of this review is to provide an overview of endocrinopathies and cardiopathies in patients with TS.