ESPE Working Group on Disorders/Differences of Sex Development
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 2018
In 2018 the COST Action DSDnet (www.dsdnet.eu) ended after a 4 year period of successful networking among clinicians and scientists working in the field of DSD. Many, if not all DSD interested ESPE (WG) members participated in this action together with other international specialists and interest groups. From this action several guidelines for clinical care were published, the most prominent in 2017/2018 were:
- Kulle A, Krone N, Holterhus PM, Schuler G, Greaves RF, Juul A, de Rijke YB, Hartmann MF, Saba A, Hiort O, Wudy SA; EU COST Action. Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'. Eur J Endocrinol. 2017 May;176(5):P1-P9.
- Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R; The EU COST Action. GENETICSIN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’. Eur J Endocrinol. 2018 Oct 1;179(4):R197-R206.
- Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, Köhler B, Berra M, Springer A, Schweizer K, Pasterski V; COST Action BM1303 working group 1. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018 Jul;14(7):415-429.
On 26 September, before the start of the Annual Meeting ESPE 2018, the i-dsd users (both clinicians and scientists), who are all almost exclusively also ESPE DSD WG members, joined together to present and discuss ongoing work from the i-dsd. In this user group meeting younger investigators were especially encouraged to present their results and discuss with established researchers in the field.
The DSD WG meeting at the ESPE Annual Meeting in Athens joined together with the Turner WG on common topic of mixed gonadal dysgenesis. The program included four excellent talks on the following subjects and speakers :
1) Longterm outcome in males with 45,X/46,XY mosaicism by Marie Lindhardt Ljubicic (presented by Ewa Rajpert-De Meyts) Copenhagen, Denmark
2) The 45X/46XY gonad and similar variants – characteristics and risk of malignancies by Ewa Rajpert-De Meyts, Copenhagen, Denmark
3) Congenital heart defects and cardiovascular risk in individuals who have a 45X/46XY karyotype by Katya De Groote, Ghent, Belgium
4) Condition-specific tools for transition care multidisciplinary programs: lessons from the Turner syndrome models by Sarah Corrathers, Cincinnati, USAIt was a good experience for both WG to work together on common themes although the program was very dense and time for discussion limited.
Planned activities for 2019
- COST Action DSDnet Meeting in Lübeck, Germany (closing event) – 23-24 February 2018: International Workshop on Sex Development and Maturation; in collaboration with:
- Endo-ERN Meeting in Lübeck (starting event) – 23-24 February 2018
- Working Group Session at 57th Annual ESPE Meeting in Athens, Greece - 27-29 September 2018.
- ESPE recognizes the work of the DSD WG and supports similar to PES a Scientific Session in their name of the upcoming 7th International Symposium of I-DSD in Sao Paolo, Brazil – 4-6 July 2019
- Working Group Session at 58th Annual ESPE Meeting in Vienna, Austria - 19-21 September 2019.
- Ongoing development of the I–CAH registry and I–DSD registry.
- Participation in Endo-ERN development.
- Participation in EuRRECa project, registry development.
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ESPE Working Group Committee Members are appointed for a term of 3-4 years, renewable once. They are elected among prominent clinicians and researchers in the field of DSD.