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

Abstract

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.

Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study

“…In the near future, 4D MRI imaging and measurement of stiffness/distensibility of the proximal aorta should be available (18). Further genetic studies are needed to decipher the molecular mechanisms involved in BAV and AD (19) and, therefore, to improve cardiovascular care in patients with TS.…”

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…Using a questionnaire to study health issues, socioeconomic indicators, sexuality, and treatment (especially testosterone replacement, and also other medications), Skakkebaek, Moore, Chang, Fedder, and Gravholt () noted that sexuality of individuals with Klinefelter syndrome was affected by a number of co‐variates such as socioeconomic status, medicinal use, physical activity, and BMI (Skakkebæk et al, ). Additionally, the Turner Syndrome Research Registry created by the TSSUS includes a module on sexuality with the intent of capturing more comprehensive, patient‐driven research in this area (Prakash et al, ). These data will further enrich the scientific community's understanding of sexuality in Turner syndrome in the coming years.…”

“…One area for improvement in the care for women with Turner syndrome considering pregnancy is the creation of registries, which are available in some Nordic countries and France to provide long‐term follow‐up of the outcome of pregnancies for both mother and child (Hagman, Loft, et al, ). This is currently lacking in the United States (Lin et al, ), but under development as a self‐reporting patient registry (Prakash, Lugo‐Ruiz, et al, ). In addition to outcome data focusing on obstetric and fetal/neonatal morbidity, it will be important to extend ongoing population‐based studies of aortic growth (Mortensen et al, ) to assess whether pregnancy has an effect.…”

‘I'm still a woman’: A qualitative study on sexuality in heterosexual women with Turner Syndrome

“…Understanding the changes associated with TS and its impact on women's sexuality is key to maintaining their quality of life. While epidemiological (Viuff et al, 2020), clinical (Gravholt et al, 2017) or psychological (Hutaff-Lee et al, 2019) studies have been conducted, there is a need to incorporate the experiences and perspectives of those affected (Prakash et al, 2019). Although experiences of women with TS on social interaction (Wolstencroft & Skuse, 2019), physical activity (Thompson et al, 2020) or impact on family life (Nisbet et al, 2022) have been studied, little is known about their sexuality and quality of life.…”