Creating Brighter Futures for Patients with Turner Syndrome

Dr. Giovanna Beauchamp leads the Turner Syndrome Clinic at Children’s of Alabama.

Turner syndrome is a genetic condition that affects only females. Caused by a missing or partially missing X chromosome, it can lead to a variety of health and developmental challenges. For years now, Children’s of Alabama has been addressing the diverse needs of this population with its quarterly Turner Syndrome Clinic.

Pediatric endocrinologist Giovanna Beauchamp, M.D., runs the multidisciplinary clinic, which includes specialists in genetics, pediatric and adolescent gynecology, audiology, child life, nephrology, cardiology and social work. Patients range from infants through teenagers and are typically referred just after diagnosis.

The clinic model is crucial, Beauchamp said, because Turner syndrome impacts numerous body systems, as well as girls’ emotional health. Common issues include short stature, puberty and fertility problems, hearing loss, heart defects, thyroid disorders, diabetes risk, learning difficulties, anxiety and social struggles.

Treatments offered through the clinic include growth hormone injections to increase height, estrogen therapy to induce puberty, medications for endocrine problems like thyroid issues, and referrals for neuropsychiatric testing to identify learning needs.

The clinic’s social worker helps secure any necessary school accommodations, such as more time for test taking. However, Beauchamp said, “these girls are extremely bright. They can sometimes have a few struggles with math, but they tend to be pretty gifted with their language skills.” They may also have issues with focusing and a higher risk of attention deficit disorder, all of which the clinic team can help with. “It’s important to know if they have any learning differences that may need to be tackled with a little bit of extra help and support,” she said.

The child life specialist is particularly important, Beauchamp said. “A lot of our girls can have some anxiety and get nervous when it comes to their visits.” Plus, the visits typically last longer than routine endocrinology visits. But the child life specialist provides a variety of activities and games, such as drawing and arts and crafts, to keep them engaged and relaxed.

“We aim to be a one-stop shop to provide the best and most thorough care for girls with Turner syndrome,” Beauchamp said.

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