International Registries for Rare Conditions Affecting Sex Development & Maturation (SDMregistries; formerly known as I-DSD/I-CAH/I-TS /I-HH)

01/06/2026
01/06/2026
Data source
Human
Disease registry
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Access and validation

Governance details

Documents or webpages that describe the overall governance of the data source and processes and procedures for data capture and management, data quality check and validation results (governing data access or utilisation for research purposes).
sdmregistries.org/about/

Biospecimen access

Are biospecimens available in the data source (e.g., tissue samples)?

No

Access to subject details

Can individual patients/practitioners/practices included in the data source be contacted?

Yes

Description of data collection

The Registry was conceived following the Chicago Consensus meeting in 2005 and the prototype ESPE DSD Register became the EuroDSD Registry in 2008 and the International DSD (I-DSD) Registry in 2011. The original platform subsequently developed dedicated modules for CAH (I-CAH, 2014), TS (I-TS, 2022), HH (I-HH, 2025) and this common platform was renamed the SDMregistries platform. Klinefelter's Syndrome module is currently being developed.

In 2026, SDMregistries has a network reaching 264 centres in 70 countries on all the continents. Of these, 180 active centres from 48 countries use the registries and had entered over 11,000 cases for supporting research.

The platform is managed by the Office for Rare Conditions Registries team at the University of Glasgow and it is supported through a wide range of sources that includes fees incurred by investigators for obtaining data for research, project grants, income from the biennial symposium. For further information visit the Studies and Learning & Training pages.
Event triggering registration

Event triggering registration of a person in the data source

Birth
Disease diagnosis
Start of treatment

Event triggering de-registration of a person in the data source

Death
Emigration
Loss to follow up
Practice deregistration

Event triggering creation of a record in the data source

New patient in the specialist clinic/centre or existing patients in the specialist clinic/centre who started to contribute data to the registry.
Data source linkage

Linkage

Is the data source described created by the linkage of other data sources (prelinked data source) and/or can the data source be linked to other data source on an ad-hoc basis?

Yes

Linkage description, pre-linked

The data is pseudonymized but there are potential data linkages. These linkages however are only available to the Registry team and not provided to any study PI.

Linkage description, possible linkage

Date of birth, Sex at birth, current gender.
Data management specifications that apply for the data source

Data source refresh

Every 6 months

Informed consent for use of data for research

Required for all studies

Possibility of data validation

Can validity of the data in the data source be verified (e.g., access to original medical charts)?

Yes

Data source preservation

Are records preserved in the data source indefinitely?

No

Approval for publication

Is an approval needed for publishing the results of a study using the data source?

No

Data source last refresh

Common Data Model (CDM) mapping

CDM mapping

Has the data source been converted (ETL-ed) to a common data model?

No