About the Turner Syndrome Program

The Turner Syndrome Program at Children’s Hospital of Philadelphia is designed specifically for girls with Turner syndrome (TS) and their families. Whether your child has just been diagnosed with TS or you have years of experience with the condition, the Turner Syndrome Program helps patients and families learn more about managing the care of girls with Turner syndrome.

As soon as we met with the Turner syndrome team, we felt at peace. The team became our best advocates, the best managers of our daughter’s healthcare.

Turner syndrome (TS) is a genetic disorder that affects girls and results in a variety of health problems ranging from short stature and lack of pubertal development to heart defects. With diagnosis, treatment and ongoing education and support, many girls with Turner syndrome lead healthy, happy and independent lives.

What we offer

The Turner Syndrome Program at CHOP provides comprehensive medical care tailored to meet the needs of patients from diagnosis and evaluation to treatment and follow-up services and resources. We provide patients with a comprehensive diagnostic evaluation that may include consultation with healthcare professionals from several subspecialties, including endocrinology, genetics, audiology, cardiology, nephrology, child development, gynecology, reproductive gynecology, orthopedics, otolaryngology and dermatology.

We also offer several programs that address the psychosocial issues commonly faced by girls with Turner syndrome and their family members, including our Spring Fling for Turner Syndrome. Social workers who are familiar with issues common to girls with Turner syndrome are also available to provide assistance to patients and their families.

Transition to adult care

For teen girls with Turner syndrome, the transition from pediatric to adult care can be challenging. During this time, it is important to identify the best providers for your child's continued care. Our program offers an organized approach to transition of care. We partner with the Adult Turner Syndrome Program at Penn Medicine, a dedicated group of providers who are familiar with the health needs of adult women with Turner syndrome. This multidisciplinary team includes providers from endocrinology, gynecology and reproductive endocrinology, cardiology, genetics, and internal medicine. Visit the Adult Turner Syndrome Program at Penn Medicine for more information.

Fertility preservation

The Turner Syndrome program has a collaborative partnership with the Fertility Preservation program at PENN Medicine. This team of Reproductive Endocrinologists specializes in all aspects of reproductive endocrinology for adult women with Turner Syndrome, including options for fertility preservation for patients who qualify. For more information, please discuss this referral with your Endocrine provider.

Prenatal consults

Advances in prenatal genetic testing have led to an increase in the diagnosis of Turner Syndrome in the fetal period. To address the questions that often arise when a diagnosis is made prenatally, our program offers consultation visits with expecting parents in partnership with CHOP's fetal medicine specialists. As one of the largest Turner Syndrome programs in the country, we have experience in care from infancy through young adulthood and offer a unique perspective on the long-term management of this condition.

Referrals to our program

We accept referrals to our program by phone or email. When you schedule an appointment for your child, you will be instructed how to send pertinent medical records to us before your child's first appointment with our program.