ESPE Abstracts

Introduction: HNF1B belongs to the organogenesis gene family. HNF1B is a rare autosomal disorder affecting early embryonic development of the urogenital tract, liver, pancreas and parathyroids. It is responsible for kidney damage and MODY type diabetes. It affects the female genital tract with a prevalence of uterine malformations of about 20%. To date, no study has evaluated the ovarian function or the gyneco-obstetrical profile of these patients.<p class...

Introduction: Germline variants of WT1 are known to generate kidney and gonadal diseases, including differences in sex development (DSD), chronic kidney disease and early kidney and gonadal tumors. However, the state of gonadal function, its evolution over time, and the impact of WT1 disease on puberty and fertility in this population have never been studied.Methods: GONADVENIR is a French national, retrospective, observ...