ESPE Abstracts

The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Cardinal features of TS include reduced final height and infertility. Apart from endocrine, renal and neurocognitive disorders, structural heart defects are frequently present (in 25% to 50%), also in TS patients with mosaicism 45,X/46,XY. Males with 45,X/46,XY frequently show stigmata typically associated with TS but data on cardiovascular patholog...