Deficient Medical Care for Adults with the Turner Syndrome

Background: The Turner syndrome is due to complete or partial absence of 1 sex chromosome in a phenotypic female, occurring in approximately 1 in 2500 live female births (1). Individuals with the disorder are at increased risk for congenital heart defects, including bicuspid aortic valve, aortic coarctation, and dilation of the aorta (2, 3). These cardiovascular defects require timely diagnosis, monitoring or treatment to prevent aortic valve deterioration, endocarditis, and aortic dissection (2). Many patients have renal defects and progressive hearing loss. Good clinical practice recommends screening for these problems with echocardiography, renal ultrasonography, and audiology at the time of diagnosis (4). The risk for deterioration of the aorta in the Turner syndrome mandates regular echocardiographic monitoring over time (4). There is little information on the extent to which these practice guidelines are implemented.

Objective: …