ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2018) 15 6.20 | DOI: 10.1530/ey.15.6.20

Department of Paediatric Endocrinology, Ghent University Hospital, University of Ghent, Ghent, Belgium

To read the full abstract: Nat Rev Endocrinol. 2018 May 16

[Comments on 6.19 and 6.20] These two publications, a review and a consensus statement, are especially useful in the clinical care for individuals with disorders affecting the sex development, albeit in different ways. Since the Chicago consensus in 2005, the knowledge of the pathophysiology and molecular genetics behind disorders of sex development has developed rapidly. The diagnostics in DSD has new possibilities with the use of molecular genetic investigations and the implementation whole genome sequencing.

First, Witchel (6.19) provides a comprehensive update on embryology, genetics, classification of DSD. It gives useful advice for how to perform a well-structured clinical and genetic initial investigation to reach a molecular diagnosis. Valuable aspects and advice for the clinical management of individuals with a DSD in multidisciplinary teams are discussed.

Secondly, (6.20) the consensus statement was developed by a European multidisciplinary group of experts, including patient representatives, in the COST Action DSDNet. The diagnostics in DSD has improved with the implementation of molecular and whole genome sequencing. Knowledge of a specific diagnosis allows personalized care. However, a prerequisite is knowledge about the natural course of the disorder and its short term as well as long term effects. Despite improvements in management and the formation of multidisciplinary teams, individuals with a DSD often have difficulties finding health care specialists knowledgeable in the field of their specific DSD. To further the understanding of long term outcomes and effects of these conditions and improve the current and future management, a structured follow up is needed. This consensus covers a large number of issues of importance for both somatic and psychological follow up of individuals with a DSD and may be important for teams and clinicians both in pediatric and adult care. The authors address both clinical management of DSD and the need for future studies that can be facilitated by a structured clinical follow up and the use of registries.

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