What is Turner syndrome?
Turner syndrome (TS), also called monosomy x, is a genetic condition where one of the X chromosomes is missing or partly missing. It only happens in people assigned female at birth (AFAB). This chromosomal issue can affect growth, heart health, fertility, and metabolism. Everyone’s experience is different, and some health concerns may not show up until later in life.
Because TS can affect many parts of the body, care often involves different specialists. Endocrinologists, cardiologists, genetic counselors, and reproductive endocrinologists may all be part of your care team. At Penn Medicine, the Adult Turner Syndrome Program brings these experts together to provide ongoing, coordinated support for your health.
Turner syndrome symptoms
Turner syndrome characteristics can include both visible traits and hidden health concerns:
- Stunted growth, usually noticeable by age five
- Low hairline at the back of the head
- Extra folds of skin on the neck (webbed neck or pterygium colli)
- Puffy hands and feet (lymphedema)
- Kidney problems (malformation or urinary tract infections)
- Bone problems (hip dysplasia or scoliosis)
- Heart conditions (aortic dilatation or aortic dissection)
- Metabolic issues (hypertension, diabetes, or thyroiditis)
- Middle ear infections
- Infertility and early menopause
What causes Turner syndrome?
Normally, people assigned female at birth have two X chromosomes (XX), while people assigned male at birth have one X and one Y (XY). Turner syndrome happens when someone born with female chromosomes is missing all or part of an X chromosome. It’s this difference in chromosomes that leads to the characteristics and health concerns linked to Turner syndrome.
Turner syndrome diagnosis
Turner syndrome can be diagnosed at any stage of life. Sometimes it isn’t found until adulthood, often when a person has very light or no menstrual periods and has difficulty becoming pregnant. If your provider suspects TS, they may order genetic testing (karyotyping) to look at your chromosomes or blood tests to check your estrogen levels.
Your care team may recommend a pelvic exam or pelvic ultrasound to check the growth and development of the uterus and ovaries and assess reproductive health. Your provider may also suggest imaging tests to look for heart and bone conditions.
Turner syndrome treatment
Turner syndrome is a lifelong condition, but with regular care and monitoring, people can live healthy, full lives. Treatment usually involves a team of specialists who focus on different aspects of your health. Hormone replacement therapy is often needed to support bone strength and reproductive health. This treatment usually continues until the average age of menopause.
Because TS can affect many parts of the body, your care team may recommend regular checks for blood pressure, cholesterol, thyroid disease, diabetes, and liver function. Heart and bone health require special attention, with periodic heart scans and bone density testing. Hearing, vision, and weight are also monitored over time. With consistent follow-up and coordinated care, most people with TS can manage these risks and enjoy a good quality of life.
Support for adults with Turner syndrome
As you get older, living with Turner syndrome means your care needs can change. Having providers who understand those changes is important. The Penn Adult Turner Syndrome Program focuses on long-term support and guidance. We help people transition from pediatric care at Children’s Hospital of Philadelphia (CHOP) to adult care at Penn Medicine.
Our team of specialists, including endocrinologists, cardiologists, and others, work together to manage the unique health challenges associated with this condition. Whether you’re continuing care from childhood or joining the program as an adult, the team helps monitor your health and coordinates care to support your long-term well-being.