hrp0095p1-322 | Growth and Syndromes | ESPE2022
P. Suntharalingham Jenifer
, Ishida Miho
, Cameron-Pimblett Antoinette
, M. McGlacken-Byrne Sinead
, Del Valle Ignacio
, Buonocore Federica
, Brooks Anthony
, Kaur Madhan Gaganjit
, Genomics Sequencing Facility UCL
, S. Conway Gerard
, C. Achermann John
Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...