Individuals with differences/disorders of sex development (DSD) constitute a special group of persons with a diverse variety of conditions often comprising multi‐faceted medical and social challenges leading to increased requirements for interdisciplinary care needs. In addition, due to the complexity of DSD, special educational programmes are needed for the range of professionals involved in the care of affected individuals and their families.

Aims

The Working Group on Differences of Sex Development aims to bring together basic scientists, clinical physicians, geneticists, laboratory specialists, specialised psychologists and members of the patient advocacy community to:

  • Promote research with special attention to cross collaboration between basic and clinical aspects
  • Develop and maintain a registry as a resource for research
  • Disseminate information and promote education
  • Guide development of standards for holistic care of patients with DSD
  • Liaise with other networks, such as the European Reference Network on Rare Endocrine Conditions (EndoERN) to collaborate on areas of mutual interest

Sessions and meetings

Working group composition

Coordinator
  • Jan Idkowiak

    Birmingham, United Kingdom

Members
  • Angela Lucas-Herald

    Glasgow, United Kingdom

  • David Zangen

    Jerusalem, Israel

  • Gonul Catli

    Istanbul, Turkey

  • Javier Aisenberg

    New Jersey, United States

  • Katja Dumic Kubat

    Zagreb, Croatia

  • Nadine Hornig

    Kiel, Germany

  • Noa Averbuch

    Tel Aviv, Israel

  • Rade Vukovic

    Belgrade, Serbia

  • Rasha Hamza

    Cairo, Egypt

  • Tülay Güran

    Istanbul, Turkey

Contact

For further information on the activities of this working group please contact the coordinator Tülay Güran (tulayguran@yahoo.com).

Publications

  1. Neumann U, van der Linde A, Krone RE, et al. Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure. Eur J Endocrinol. 2022 Apr 11;186(5):587-596. doi: 10.1530/EJE-21-1085. PMID: 35290211; PMCID: PMC9066592.
  2. Guran T, Flück CE. Introduction [published online ahead of print, 2021 Sep 28]. Horm Res Paediatr. 2021;10.1159/000519896. doi:10.1159/000519896.
  3. Syryn H, Van De Vijver K, Cools M. Ovotesticular Difference of Sex Development: Genetic Background, Histological Features, and Clinical Management [published online ahead of print, 2021 Sep 1]. Horm Res Paediatr. 2021;275-284. doi:10.1159/000519323
  4. Kouri C, Sommer G, Flück CE. Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity [published online ahead of print, 2021 Sep 17]. Horm Res Paediatr. 2021;279-289. doi:10.1159/000519691
  5. Lucas-Herald AK, Rashid Ali S, McMillan C, et al. I-DSD – The first 10 years. Horm Res Paediatr. 2022 Apr 7. doi: 10.1159/000524516. Epub ahead of print. PMID: 35390801.