Objectives This scoping review identifies existing registries collecting data on Klinefelter’s syndrome (KS) patients and what data are collected, with the purpose of identifying any KS-specific registries. Findings to be used to inform future registry development.
Design A comprehensive scoping review was conducted. Multiple sources were reviewed and articles screened based on inclusion criteria and exclusion criteria.
Data sources Searches performed across multiple sources including PubMed, Embase, the Cochrane Library, WHO International Clinical Trials Registry Platform, Orphanet, EU Clinical Trials Register, King’s College London Library and charity organisation webpages. Eligibility criteria The included studies were required to focus on KS patients with reported data from an active registry that routinely collects data on KS patients.
Data extraction and synthesis Basic information about registries identified in included articles was extracted. Registries identified were contacted with a standardised set of questions to collect additional contextual information.
Findings are presented in tables. Results The scoping review included 18 articles.
From those, 10 registries storing KS patient data were identified. Only one of those registries was KS-specific.
BMJ Open published a clinical update in Research Highlights on 04 Jun 2026.
The item focuses on Mapping the current landscape of Klinefelter Syndrome registries: a scoping review.
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