The Turner syndrome research registry: Creating equipoise between investigators and participants

Scientific Advisory Board of the TSRR

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.

Original languageEnglish (US)
Pages (from-to)135-140
Number of pages6
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number1
StatePublished - Mar 2019
Externally publishedYes


  • Turner syndrome
  • patient-centered
  • registry
  • research

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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