Turner Syndrome

Mission Statement

To enhance the clinical care of individuals with Turner syndrome, the PES TS SIG aims to improve dissemination of knowledge, increase awareness, establish mechanisms for research and clinical collaborations, and organize advocacy efforts.

Goals and Objectives

• Advocacy Subcommittee:
  • Liaisons : Doris Fadoju, Nandini Vijayakanthi
    • Support formation of Turner syndrome multidisciplinary clinics in more regions, and explore mechanisms for awareness, compliance with current guidelines, and funding where needed.
    • Help achieve better health care access for patients by informing policy.
    • Outreach to AAP- work on article on TS in AAP newsletter.
    • Increase exposure of TS topics to primary care providers (pediatric and adult) and the general public : Talks/lectures for pediatricians
    • Collaboration with TSSUS, TSGA, and TSF
• Education Subcommittee:
  • Liaisons: Carolina Di Blasi, Gio Beauchamp, Elizabeth Dabrowski
    • Educate and promote interaction and exchange of information amongst pediatric endocrinologists and other health care providers of TS patients to ensure safe and appropriate clinical care.
    • Support transition of care to adult providers
    • Establish and maintain a PES-sponsored website for use by TS providers
    • Continue to develop educational material for trainees in both adult and pediatric subspecialties to enhance management of TS patients.
    • Support patient and family education and increase health literacy.
• Research Subcommittee:
  • Liaisons: Catherina Pinnaro, Arushi Verma
    • Identify crucial research topics and develop resources to accomplish them and promote dissemination of results in targeted journals.
    • Promote ongoing TS research to patients and TS providers to improve patient participation and researcher contribution to and utilization of current databases/registries.
    • Increase the funding pool for TS-centered research via contact with NIH officials or other agencies.
    • Collaboration within and outside TS-specific research.
    • Coordination of journal club to disseminate TS-specific research to the PES community

Patient Resources Page

Completed projects:

NEW! “Peds Endo Flip” – Turner Syndrome published on MedEdontheGo click here for more information.

• Created family version of TS international guidelines in English and Spanish, it is also translated into Portuguese. Available for download in Up to date Turner syndrome: Clinical manifestations and diagnosis – UpToDate [Family and Caregiver support]
• Published article on TS in Georgia AAP Fall newsletter 2024. 72645_Newsletter.pdf_LO [Pages 8-9]
• Opinion paper on “Cell-Free DNA Screening Positive for Monosomy X: Clinical Evaluation and Management of Suspected Fetal or Maternal Turner Syndrome. Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome – PubMed
• Interactive TS cases designed for early learners (ex: med students and residents) to learn about growth, puberty and TS. https://edpuzzle.com/assignments/6631aa7ae0517e1fa1796126/watch [edpuzzle.com] [Class code : duvnurl]