ea0099p356 | Reproductive and Developmental Endocrinology | ECE2024
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To describe the clinical, biological and socio-professional characteristics of the first series of previously unpublished patients with mKS-XX.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...