ESPE Abstracts

Background: Pure gonadal dysgenesis 46 XY is a rare form of sexual differentiation disorders.Objective and hypotheses: This study describes the diagnosis circumstances, clinical, biological and radiological presentation, and genetic aetiology of 14 patients with a 46 XY pure gonadal dysgenesis.Method: It is a retrospective descriptive multicenter study from Necker Hospital (Paris) and Lille university hospitals.<p class="abstex...

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...

Purpose: ACTH-independent bilateral adrenal hyperplasia is a rare cause of pediatric Cushing's syndrome (CS). Our objective was to describe the features of pediatric ACTH-independent CS and to compare groups defined by etiology.Methods: We conducted a retrospective observational study of patients aged 0–18 years at management in 1992–2022 for ACTH-independent CS in any of three Paris university pediatric...