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 pathology are scarce. Case reports and small series show that abnormalities of the heart and the great vessels are frequent and include the same lesions that are found in female Turner patients (i.e. aortic coarctation, bicuspid aortic valve and aortic dilation). It is advised to perform cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome. Based on the I-DSD registry we designed an international multicentre retrospective study to verify the prevalence of cardiovascular pathology in a larger group of 45,X/46,XY patients and to map the current policy on cardiovascular screening in males with mosaicism 45,X/46,XY. Data collection is ongoing and the preliminary results of the study will be presented.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology