Turner Syndrome

Turner syndrome is a rare condition that affects growth and development in girls and women. It is a chromosomal disorder, meaning that it is caused by irregularities in the DNA, and it is a congenital defect, meaning it is present at birth. The most common result of Turner syndrome is lower-than-average height, which usually is noticed by age 5. Because it affects the female ovaries (part of the reproductive system), many affected girls do not go through puberty, and most cannot have children. Other symptoms can vary from person to person but may include extra folds of skin on the back of the neck, swelling of the hands or feet, skeletal abnormalities, and kidney problems. Many females with Turner syndrome are also born with a heart defect, such as a narrowing of the large artery that leaves the heart (a condition called coarctation of the aorta) or abnormalities of the aortic valve, one of the heart’s four primary valves. Problems caused by these heart defects can be life-threatening.

Turner syndrome may be diagnosed before birth, shortly afterward, or during early childhood. In some cases, however, the condition may not be diagnosed until well into adulthood. The exact cause is not known. Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of medical specialists, but most can lead relatively healthy, independent lives with the proper care.

UAB Medicine operates a Marfan Syndrome and Related Disorders Clinic, which is a multi-specialty clinic that includes physicians from the UAB Department of Pediatric Cardiology and the UAB Department of Genetics. Services offered include physical exams, echocardiogram/EKG, and genetic testing for diseases and conditions of the aorta, when needed. The clinic’s genetic counselor works with patients to help them better understand their condition and evaluate their risk for medical issues based on genetic testing results.

Because Marfan syndrome can affect the heart, patient care also may be provided by the UAB Congenital Heart Disease Program. The program offers the most advanced care for congenital (present at birth) heart disease, which often requires lifetime monitoring and care. Our multi-specialty team of pediatric and adult cardiologists, cardiovascular surgeons, cardiovascular anesthesiologists, and maternal-fetal medicine specialists have unique expertise in treating patients before birth and into adulthood.

UAB Medicine’s modern ultrasound equipment allows many heart defects to be diagnosed before a child is born. Screening exams performed at 18-20 weeks are recommended for expecting mothers or fathers known to have congenital heart disease. If a defect is discovered, our experts provide prenatal treatment and develop a plan for delivery and treatment after birth.

Thanks to advances in pediatric congenital care, the life expectancy for most patients now reaches far into adulthood. However, more than half of the people with congenital heart problems stop seeing a cardiologist once they turn 18. UAB’s Alabama Adult Congenital Heart Disease Program is designed to prevent that gap in care. As the only adult congenital heart disease program in the state and one of only a few in the country, our expertise greatly increases the chances that symptoms will be identified early. This helps ensure that less serious problems are addressed before they develop into larger, more life-threatening issues such as heart failure, arrhythmia, residual congenital heart defects, endocarditis, and stroke.