IMPE Abstracts

In recent years, technological advances have widened the diagnostic and therapeutic possibilities in Differences of Sex Development (DSD). In parallel, societal and ethical values have changed in a way that several aspects of traditional DSD care have been vigorously questioned. In answer to this (r)evolution, new management models, based on transparency, psychosocial support and patient autonomy have emerged, and teams have expanded in order to provide qualitative individuali...

Background: Variants in Steroidogenic Factor 1 (SF-1/NR5A1) lead to a broad spectrum of phenotypes including differences of sex development (DSD). Individuals with DSD are born more often small for gestational age and are smaller than the general population, but mechanisms remain unclear. In this study we assessed if SF-1/NR5A1 variants may play a role in growth impairment and whether auxological parameters correlate with the degree of DSD in an inter...