Searchable abstracts of presentations at key conferences in endocrinology

ea0099p356 | Reproductive and Developmental Endocrinology | ECE2024

Clinical, biological and socio-professional characteristics of patients harboring the 46,XX/47,XXY mosaic sex chromosome aneuploidy: the MOSAI-XX multicenter study

Zaegel Nadia , Plotton Ingrid , Bouvattier Claire Morel , Chasseloup Fanny , Maiza Jean-Christophe , Vanakker Olivier , Kamenicky Peter , Salenave Sylvie , Lucie Tosca , Veyt Nathalie , Young Jacques , Maione Luigi

Background: Sex chromosome mosaic aneuploidy 46,XX/47,XXy (mKS-XX) is a very rare syndrome, with only twenty-one cases previously reported. No patientsÂ’ series with mKS-XX and no comparative studies between mKS-XX and the common homogeneous Klinefelter syndrome (KS) have so far been described.Aims: To describe the clinical, biological and socio-professional characteristics of the first series of previously unpublished patients with mKS-XX. To find p...