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.
The DSD Working Group 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
Report on activities from the past 12 months
Some members of the ESPE WG DSD were still involved in ongoing projects that had been started with the I-DSD and I-CAH registry (1).
The Working Group sponsored a special session at the 9th I-DSD Symposium 2022 (14-16th July 2022, Bern, Switzerland). View the programme here.
Board members of the ESPE DSD working group worked collaboratively on the content and contributed to a special issue of Hormone Research in Paediatrics entitled “Differences/disorders of sex development” (2-5).
References/Publications
- 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.
- Guran T, Flück CE. Introduction [published online ahead of print, 2021 Sep 28]. Horm Res Paediatr. 2021;10.1159/000519896. doi:10.1159/000519896.
- 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
- 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
- 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.
Related Websites
- .Coordinator
- .Secretary
