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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 the past 12 months

Several members of the ESPE WG DSD were still involved in ongoing projects that had been started with the COST action DSDnet. Some use the I-DSD and I-CAH registry for these studies (1, 2, 3). In a collaboration of several members a new score for clinical description of the ambiguous/atypical genitalia from birth to 2 years of age has been developed and validated. This External Genital Score (EGS) is suggested to replace the Prader score and the EMS (4). As the DSDnet action closed in April 2018, guidelines and gaps for research and patient care were identified for the future (5, 6). Many clinicians, researcher and DSD representatives work now together in Endo-ERN (https://endo-ern.eu/), where DSD is represented in MTG7 Sex Development & Maturation (Deputy Coordinator Prof. Olaf Hiort, Germany).

The Working Group sponsored a special session at the 7th International Symposium of I-DSD in Sao Paulo, Brazil in July 2019.  View the programme here.

 

References/Publications

  • Ali S et al. The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development.  J. Mol. Sci. 2019, 20. doi.org/10.3390/ijms2018440
  • Ljubicic ML et al.  Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.  J Clin Endocrinol Metab. 2019 Oct 1;104(10):4366-4381. doi: 10.1210/jc.2018-02752.
  • Bacila I et al Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6417-6429. doi: 10.1210/jc.2019-00031.
  • Van der Straaten S et al. The External Genitalia Score (EGS): A European multicenter validation study. J Clin Endocrinol Metab. 2019 Oct 29. pii: dgz142. doi: 10.1210/clinem/dgz142.
  • Flück C et al.  Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. Eur J Endocrinol. 2019 Nov;181(5):545-564. doi: 10.1530/EJE-19-0363
  • Hiort O et al Addressing gaps in care of people with conditions affecting sex development and maturation. Nat Rev Endocrinol. 2019 Oct;15(10):615-622. doi: 10.1038/s41574-019-0238-y

 

Related Websites

For further information on the activities of this Working Group please contact the Coordinator Tulay Güran at tulayguran@yahoo.com 

Working Group Steering Committee

Coordinator

Tulay Guran

(Turkey)

Secretary

Rade Vukovic

(Belgrade)

Christa Flück

(Switzerland)

Martine Cools

(Belgium)

Claire Bouvattier

(France)

Rodolfo Rey

(Argentina)

 

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.