A national survey of paediatric Turner syndrome services in the UK: current practice and variability in care

Introduction: Turner syndrome (TS) is a complex genetic condition requiring lifelong, multidisciplinary care. International consensus guidelines exist, but the organisation of paediatric TS services in the UK has not been systematically explored. Methods: A structured electronic survey was distributed to paediatric endocrinology centres across the UK with responses collected from June 2023 to February 2024. The survey collected information on service configuration, staffing, multidisciplinary team (MDT) composition, transition pathways, use of consensus guidelines, and engagement with patient registries and support societies. Results: Responses were received from 20 UK tertiary centres. Six out of 20 centres operated a dedicated TS clinic. MDTs were limited in most centres to paediatric endocrine consultants and nurse specialists, and shared care models for outreach patients were common. Transition practices varied, with 45% of centres using TS-specific pathways, 45% using general endocrine transition pathways, and 10% without a transition pathway. Awareness of international TS guidelines, the Turner Syndrome Support Society, and the i-TS registry was high, but active engagement varied. Conclusion: Significant variability exists in UK paediatric TS service models. Centres without dedicated clinics were generally smaller with fewer patients. Geographic challenges may exacerbate inequalities for outreach patients. While some centres offer best practice examples, improvements in MDT availability, transition planning, and registry engagement are needed to align more closely with international care recommendations.