ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2008) 16 ME11

More than a change of nomenclature: disorders of sex development (DSD)

Olaf Hiort


University of Lübeck, Lübeck, Germany.


Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation, formerly termed ‘intersexuality’. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in most patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, for decision making and also for therapeutic interventions a highly specialized team of physicians of different subspecialties and of experts for psychosocial care is needed to counsel parents and patients accordingly. This meet-the-expert session will focus on the genetic and molecular origins of DSD, the new DSD nomenclature, the consecutive classification and steps for diagnosis. Cases of DSD with special challenges will be presented and discussed with the auditorium.

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