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ACRC Clinic Spotlight: MassGeneral Hospital Klinefelter Syndrome Clinic

The MassGeneral Hospital Klinefelter Syndrome Clinic is the most recent addition to the ACRC (AXYS Clinic and Research Consortium). They offer care throughout the lifespan, from caring for those with a prenatal KS diagnosis to adults of all ages. While the clinic is named for KS, they specialize in all male X and Y chromosome variations, including 47,XYY, 48,XXYY, and 48,XXXY. Individuals with 47,XXX can also receive care at MGH through a separate team within the Medical Genetics department.

This clinic was created in part due to the efforts of the NEXXYS Support Group. Several members of this group saw the need for a clinic in New England and worked with MassGeneral Hospital to establish the clinic.“Our multidisciplinary clinic was inspired by patient feedback, and it is our hope that those with Klinefelter syndrome and other sex chromosome variations can consider our clinic a “medical home,” says Emma Snyder, the Clinic Coordinator. “I am the first point of contact for new patients and an ongoing resource to patients with further questions about our services.”

Led by co-directors Frances A. High, MD PhD, specializing in Medical Genetics and Frances J. Hayes, MBBCh BAO, who specializes in Reproductive Endocrinology, the MassGeneral Clinic takes a multidisciplinary approach to providing coordinated care. They offer a comprehensive evaluation and work with your primary care providers to identify specialty needs, coordinate care, and improve outcomes.

The clinic offers a multidisciplinary team of medical, surgical, and neuropsychological specialists, and can refer to many other subspecialties at MassGeneral as needed. “We want to grow the ease of transition from pediatric to adult care,” says Emma. “As you reach your 20s, you often lose access to services in the education system but may continue to need support, including mental healthcare.” This clinic was designed to meet these needs.

New to the team is genetic counselor, Ashley Wong, MS. In her role in the KS clinic, Ashley focuses on the psychosocial counseling aspect of genetic counseling. She is a resource for patients and their families as they navigate various aspects of a KS diagnosis, particularly the neurodevelopmental components.

To learn more about the clinic or make an appointment, call Emma at 617-726-5521 or send her an email at esnyder2@mgh.harvard.edu. For MGH Trisomy X care, call Medical Genetics at 617-726-1561.

2020-01-20T12:19:17-05:00Categories: All Variations|Tags: , |

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.

 

2019-03-23T16:58:19-04:00Categories: All Variations|Tags: , |