WG-3 “Harmonisation of Laboratory Assessment”

Chair:Prof Stefan Wudy (Germany)
Co-Chair:Dr Alexandra Kulle (Germany)


The Working Group 3 will coordinate recommendations on laboratory assessment for DSD with regards to technologies involved and analyses to be investigated. Specifically it will:

  • Identify appropriate laboratory determinations useful in DSD diagnostics
  • Develop age-related, assay-specific reference intervals for DSD differential diagnosis
  • Develop guidelines for the usefulness of specific laboratory analysis in I-DSD database
  • Elucidate correlations between laboratory findings, genotype, and phenotype for DSD differential diagnosis (in collaboration with WG-1 and 2).
  • Develop assays for rapid screening of the steroid metabolome in DSD, which will be available commercially to diagnostic laboratories
  • Develop laboratory approaches for appropriate biomarkers to follow hormonal therapies in DSD patients with need for hormone substitutions and therapies (including CAH).


Progress report June 2016

  1. Composition of Working Group 3
    New European and non-European members have been successfully recruited, so that working group 3 now comprises a well balanced spectrum of clinical and analytical specialists in DSD-related hormone analysis which will unite both specialists in steroid hormones and specialists in peptide hormone analysis.
  2. Position Statement 1 “Steroid Analysis in DSD”
    the first position statement “Steroid Hormone Analysis in Diagnosis and Treatment of DSD” will be finalized at the next group meeting in Barcelona and thereafter published.
  3. Establishment of an “External Quality Assurance Program (EQUAS)”
    contact and highly fruitful cooperation has been meanwhile established between Dr. Ronda Greaves, (RMIT University, Melbourne, Australia) as respective representative of the Australian Royal College of Pathologist’s Quality Assurance Programs and Dr. Stefan A. Wudy, leader of WG 3 within this COST initiative DSD net. Making use of mutual expertise and work force, a first attempt regarding set up of an external quality assurance program (EQUAS) regarding harmonization of serum hormones has been started. Dihydrotestosterone (DHT), a highly important steroid marker in DSD diagnosis, has been selected as an initial parameter and a first manuscript has been submitted already. If successful, the activity will open up both on an European as well as on a global scale and further analytical parameters will be included, too.
  4. Teaching Activities
    various members of working group 3 have been and will be involved in various educational activities both at a national as well as an international level (e.g. national scientific society meetings, ESPE Summer School, Ipocrates Seminars, DSD Training School)  training young pediatric endocrinologists with respect to rational hormonal diagnosis in DSD. As a further side effect, awareness of the scientific and medical community with respect to DSDnet has been raised substantially.