ESPE Abstracts (2019) 92 MTE1

Holistic Approach to the Individual with DSD

Martine Cools


Ghent University Hospital, Ghent, Belgium. Ghent University, Ghent, Belgium


Management of DSD is a sensitive area within the field of paediatric endocrinology. On the one hand, major progress has been made in amongst others understanding the molecular genetic background and the germ cell cancer risk of certain DSD conditions. On the other hand, practices that were common in the past, such as early genital surgery have become strongly criticised and controversial nowadays, leaving clinicians as well as patients and their families with a lot of questions regarding optimal management. To address these, a lot of effort, including the voices from patient representatives, has been put in developing tools and guidelines to standardise diagnostic procedures and clinical care across centers and geographical areas. The aim of such international collaboration is to further raise quality of care and to allow for studying long-term outcomes of the new management paradigms through international registration and data collection. Central in this endeavour is the holistic approach to the individual with a DSD and the development of specialized multidisciplinary teams in which all members have their unique and indispensable roles. Patients and parents have a key role in these teams; therefore enhancing understanding of the condition and its consequences and respectful communication between all team members is considered the cornerstone of care.

In this session, we will illustrate this approach with some concrete examples derived from clinical practice. Learning objectives include to obtain an overview of the recent practice changes and their rationale, to become familiar with the diagnostic and management tools and guidelines that have recently become available for the clinician with an interest in DSD and to share experiences with alternative approaches for the management of atypical genitalia.

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