WG-1 “Harmonisation and Standardization of Clinical Phenotyping and Management”

Chair:Prof. Martine Cools (BE)
Co-Chair:Prof. Alexander Springer (AT)

 

The Working Group 1 has the duty to elaborate a workflow on clinical assessment for better characterisation and care of DSD. Specifically it will:

  • Identify phenotype ontologies and establish consensus on phenotypic (time-dependent morphology) characteristics
  • Create stringent clinical work-flow for assessment of individuals in conjunction with the I-DSD database
  • Enhance enrolment of patients

 

Progress report June 2016

In the past 2 years, WG1, composed of health care professionals from various disciplines and countries and representatives from patient advocacy groups,  has extensively worked on standardization of clinical phenotyping in DSD. For this purpose, topics that need to be prioritized in future collaborative research were identified. Currently, there is lack of long-term outcome data regarding general health, functional outcome after surgical procedures, psychological well-being and overall and condition-specific quality of life. Consensus was reached on standardized assessment and registration of individuals having a DSD condition at various time points. The resulting phenotypic assessment tool includes items on the above mentioned topics. The input from advocacy groups guarantees data acquisition in a sensitive way, in accordance with the needs from affected individuals. Emphasis was placed on the use of a non-binary vocabulary and assessment tools. For that purpose, the currently used “External Masculinisation Score” was modified into the “External Genitalia Score”, which is currently validated in a multicenter collaborative study.

Results from our activities will be summarized in a manuscript entitled “Consensus on the phenotypic description of DSD across the life span”, which is currently under preparation.

In the last year of the COST Action, this phenotypic assessment tool will be tested on individual patients and, after final adjustments, incorporated into the existing I-DSD Registry. It is foreseen that this tool will greatly enhance future collaborative research in the framework of the developing RareEndoERN.   

  • Develop specific criteria for centres of expertise (CoE) for DSD according to specific needs and EUCERD recommendations
  • Compile a list of specialized CoE in Europe and contacts for the website and enhance outreach and dissemination to clinicians around the world
  • Create the prerequisites for a European Reference Network on DSD
  • In cooperation with WG-4 develop patient-orientated information/education materials
  • Correlate phenotypes with genotypes according to the results of genetic and laboratory analysis (with WG-2 and WG-3)