ESPE Yearbook of Paediatric Endocrinology

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...