Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): Recommendations from the COST action DSDnet

Christa Flück, Anna Nordenström, S. Faisal Ahmed, Salma R. Ali, Marta Berra, Joanne Hall, Birgit Köhler, Vickie Pasterski, Ralitsa Robeva, Katinka Schweizer, Alexander Springer, Puck Westerveld, Olaf Hiort, Martine Cools*

*Corresponding author for this work
3 Citations (Scopus)


The treatment and care of individuals who have a difference of s ex development (DSD) have been revised over the past two decades and new guidelines have been published. In ord er to study the impact of treatments and new forms of management in these rare and heterogeneous conditions, standardised assessment procedures across centres are needed. Diagnostic work-up and detailed genital phe notyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comor bidities which may only be observed through lifelong follow-up. The impact of medical treatments and surgical (non-) interventions warrants special attention in the context of critical review of current and future care. It is equally im portant to explore gender development early and refer to specialised services if needed. DSDs and the medical, psycholog ical, cultural and familial ways of dealing with it may affect self-perception, self-esteem, and psychosexual function. Therefore, psychosocial support has become one of the cornerstones in the multidisciplinary management of DSD, bu t its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry w ill allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical exp erts and patient and parent representatives designed a template for structured longitudinal follow-up. In this paper, we explain the rationale behind the selection of the dataset. This tool provides guidance to professionals caring fo r individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questi ons of patients, clinicians, and researchers. Ultimately, outcomes for defined subgroups of rare DSD conditions should be studied through large collaborative endeavours using a common protocol.

Original languageEnglish
JournalEuropean Journal of Endocrinology
Issue number5
Pages (from-to)545-564
Number of pages20
Publication statusPublished - 11.2019

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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