IMPE Abstracts

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...