AXYS Clinic and Research Consortium Spotlight: Children’s Hospital of Philadelphia

Klinefelter and All XY Variations Program at CHOP

In 2015, the AXYS Board of Directors created the AXYS Clinic and Research Consortium (ACRC). This exciting development committed us to organize, fund and expand a consortium that operates as independent clinics which collaborate with one another, share informational resources, and explore opportunities to participate in joint research projects. In addition, AXYS organizes annual meetings of the consortium where members meet to discuss topics important to the SCA community.

One goal of AXYS is to ensure that all families impacted by X and Y chromosome variations have access to the best available evaluation and treatments. The ACRC is an important means of achieving that goal.

In 2018 the Klinefelter and All XY Variations Program at the Children’s Hospital of Philadelphia (CHOP) joined the ACRC. The clinic’s medical director is Maria G. Vogiatzi, MD, an attending physician in the Division of Endocrinology at CHOP. Her research includes many articles on SCAs including this article published last month: Endocrine aspects of Klinefelter syndrome. A co-author on this paper is Michelle McLoughlin, MSN, CRNP, CPNP-AC, a pediatric nurse practitioner in the Division of Endocrinology and Diabetes at CHOP. Michelle is well-known by many in the AXYS community who live in the Philadelphia region as she treats their children alongside Dr. Vogiatzi.  Beth Keena, MS, LCGC and Dr. Zackai provide the genetic counseling for the team.

The CHOP program, established in 2016, follows approximately 80 families. They held their first Klinefelter Patient Family Support Group Symposium on March 9, 2019. AXYS greeted families at the registration desk and shared brochures and information on our 2019 Family Conference. This Saturday morning event offered families scientific and practical information on many aspects of Klinefelter Syndrome from endocrine concerns to behavior.

“We were very excited to see so many families coming to our first support group symposium,” said Dr. Vogiatzi. “We feel that there is a great need for educational and support programs and we expect to hold more events in the future.”

For more information on the program at CHOP contact Office Coordinator Meagan Snow-Bailey or Nurse Practitioner Michelle McLoughlin at 215-590-3174 or send an email to AdrenalPubertyCenter@email.chop.edu

You can learn more on their Website: www.chop.edu/conditions-diseases/klinefelter-syndrome.