Clinical Working Group

WORKING GROUP 1: CLINICAL

The focus of Clinical Working Group (WG1) is to bring together leading International experts in the areas of pediatric and adult endocrinology to facilitate diagnosis, treatment, education and counseling of patients with congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS).

Specific aims

  • Establish phenotype ontologies and consensus on phenotypic characteristics for database entry
  • Create and publish guidelines for diagnosis, treatment and genetic counseling to be accessible on the website for clinicians and patients
  • Compile a list of specialized referral centers
  • Establish and curate a web-accessible database of the de-identified clinical and genetic information on the GnRH deficient cohort
  • Together with the Genetics and Bioinformatics Working Group (WG2): Correlate the patient phenotypes with the results of the genetic analyses
  • Launch collaborative clinical studies on GnRH deficiency
 Last updated on 15/06/2018 at 16:22