Mapping the current landscape of Klinefelter Syndrome registries: a scoping review

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.

A comprehensive scoping review was conducted. Multiple sources were reviewed and articles screened based on inclusion criteria and exclusion criteria.

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.

The included studies were required to focus on KS patients with reported data from an active registry that routinely collects data on KS patients.

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.

The scoping review included 18 articles. From those, 10 registries storing KS patient data were identified. Only one of those registries was KS-specific. Only three out of 10 registries collected data that encompassed genetic, clinical and social variables. Most data included in registries were collected exclusively from medical records, although some registries included data from patient surveys. Registries that received government funding had more KS participants than those that did not.

With only one KS-specific registry existing worldwide and none within the UK, this review has identified a need for the development of further KS-specific registries. Data collected could be used to develop an accurate KS phenotype and therefore lead to increased diagnosis of the disorder, improving the lives of people with KS.