Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology

ABSTRACT

Over a decade ago, the participants at the International Consensus Conference on Intersex proposed Disorders of Sex Development (DSD) as an umbrella term for “congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical”. The Group recommended the terminology be sensitive to concerns of individuals having these conditions. Yet, controversy rages over the term DSD. This multicentre clinical evaluation study was initiated as part of the European research group dsd-LIFE to evaluate patient-reported outcome. In total, 1,040 individuals with conditions labeled as Disorders of Sex Development were recruited in Poland, Sweden, Germany, France, United Kingdom and the Netherlands. All participants were asked to rate the terms describing their conditions. Overall, a large majority of participants (69%) reported that the term Disorders of Sex Development applied to their condition or that they felt neutral about it. Most participants preferred terms that were specific to their somatic condition. Overall, our data do not support the view that, in general, the term Disorders of Sex Development is insensitive to concerns of affected persons and that it should therefore be abandoned. However, in the clinical encounter, we recommend that clinicians evaluate each patient’s preferences.

Acknowledgments

For an overview of all contributors, see the study protocol. Other members of the dsd-LIFE group are: Birgit Koehler, Peggy Cohen-Kettenis, Annelou de Vries, Wiebke Arlt, Claudia Wiesemann, Jolanta Slowikowska-Hilczer, Aude Bracde la Perriere, Charles Sultan, Francoise Paris, Claire Bouvattier, Ute Thyen, Nicole Reisch, Annette Richter-Unruh, Hedi Claahsen-van der Grinten, Anna Nordenstroem, Catherine Pienkowski and MariaSzarras-Czapnik.

The authors publish this paper in memoriam and with the greatest thanks to Privatdozentin (PD) Dr. Birgit Koehler (Charite ́Universitätsmedizin, Klinik für Pädiatrie m. S. Endokrinologie und Diabetologie), the principal investigator of the European consortium dsd-LIFE and initiator and coauthor of this paper, who died in March 2019 from a severe illness. We honor her dedicated leadership, energy and enthusiasm for the dsd-LIFE project and the collaboration of clinicians, patients and support groups, which aim to improve clinical care for “differences/disorders of sex development.” The authors are in deep grief about this loss and state their gratefulness for the outstanding work of Dr. Koehler. The authors are grateful to the participants of dsd-LIFE and to all of the study centers for their enthusiasm and dedication in contacting potential participants and collecting high-quality data. They especially thank the support groups in the different countries for their help.

Notes

¹ Since we wanted to assess the participants’ understanding of the term, we did not provide an explanation of the DSD terminology.

Additional information

Funding

The research leading to these results has received funding from the European Seventh Framework Program [FP7/2007-2013] under grant agreement n°305373.