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

in European Journal of Endocrinology
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  • 1 Paediatric Endocrinology and Diabetology, Department of Paediatrics and Department of BioMedical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
  • 2 Paediatric Endocrinology Unit, Department of Women’s and Children’s Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
  • 3 Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
  • 4 Department of Obstetrics and Gynaecology, Ramazzini Hospital, AUSL Modena, Modena, Italy
  • 5 CAH Support Group, UK
  • 6 Department of Paediatric Endocrinology, Charité University Medicine, Humboldt University Berlin, Berlin, Germany (recently deceased)
  • 7 Department of Psychology, University of Cambridge, Cambridge, UK
  • 8 Clinical Center of Endocrinology and Gerontology, Medical University-Sofia, Medical Faculty, Sofia, Bulgaria
  • 9 Institute for Sex Research and Forensic Psychiatry, University Clinic Hamburg Eppendorf, Hamburg, Germany
  • 10 Department of Paediatric Surgery, Medical University Vienna, Vienna, Austria
  • 11 DSDNederland, The Netherlands
  • 12 Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany
  • 13 Department of Paediatric Endocrinology, Ghent University Hospital, Department of Internal Medicine and Paediatrics, University of Ghent, Ghent, Belgium

Correspondence should be addressed to M Cools E-mail martine.cools@ugent.be

*(C Flück and A Nordenström contributed equally to this work)

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The treatment and care of individuals who have a difference of sex development (DSD) have been revised over the past two decades and new guidelines have been published. In order 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 phenotyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comorbidities 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 important to explore gender development early and refer to specialised services if needed. DSDs and the medical, psychological, 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, but its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry will allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical experts 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 for individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questions 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.

Supplementary Materials

    • Supplementary Table 1: Tool for assessment of hypospadias (repair)
    • Supplementary Table 2. Gynaecological assessment tool for longitudinal DSD care