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The Penn Adult Turner Syndrome Program is a multi-disciplinary program for adults with Turner Syndrome (TS). This program was established to successfully transition these patients from the Children’s Hospital of Philadelphia (CHOP) as well as CHOP or Penn Medicine pediatric practices to adult care at Penn Medicine.

Penn provides continued comprehensive care and health supervision for adults with TS. This includes consultation with several subspecialties, including endocrinology, genetics, cardiology and reproductive endocrinology. We offer a comprehensive diagnostic evaluation, however most people with TS already have a confirmed diagnosis when transitioning from pediatric endocrinology.

About Turner Syndrome?

Turner syndrome is one of the most common chromosome anomalies in humans, caused by loss of part or all of an X chromosome. The most common feature is short stature, which is generally evident by age five.

Approximately 30 percent of people with TS have a low hairline at the back of the neck, as well as extra folds of skin on the neck (webbed neck), puffiness of the hands and feet, kidney and skeletal problems. People with TS are also at risk of certain cardiac conditions, such as aortic dilatation and dissection.

Another common feature is early loss of ovarian function. Many people with TS do not undergo puberty unless they receive hormonal therapy. Additionally, people with TS are at risk for infertility and early menopause and may need assistance with family building, as well as hormone replacement therapy.

Read about the causes, symptoms, diagnosis and treatment of Turner Syndrome

Care of Adults with Turner Syndrome

People with Turner Syndrome require multi-system care. They should have periodic screenings for blood pressure, cholesterol, diabetes, thyroid disease, and liver functions, as these concerns are more common in individuals with TS.

Additional endocrinology evaluations are recommended for bone health and reproductive endocrinology, including hormone replacement. Ongoing cardiac evaluations are recommended, especially if you have a history of structural heart disease, as some complications of TS can develop in adulthood. Periodic hearing assessments also are recommended.

Transitioning from CHOP

The transition from CHOP to Penn Medicine is provided by a Multidisciplinary Intervention Navigation Team (MINT) that works with patients, families and healthcare teams to improve the quality and safety of patient transitions from CHOP to adult healthcare.

To learn more about transitioning from CHOP to Penn for TS care, please contact Drs Staci Kallish, Sheila Quinn, or Laura Robinson. If you are seeking care on behalf of a CHOP patient, please contact the MINT.

In This Section

Treatment Team

Meet the Penn Medicine team specializing in treating Adult Turner Syndrome.

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