hrp0092p3-236 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Klinefelter Syndrome Presenting with Learning Disabilities: Case Reports

Parastatidou Stavroula , Iavatso Evangelia-Paraskevi , Xenopoulou Theodora , Batsakoutsa Alkistis , Vlachou Thomais , Zosi Paraskevi

Introduction: Klinefelter syndrome (KS) occurs in approximately 1 in 650 males, representing the most common sex chromosome disorder. However, it is estimated that only 25% of KS patients are ever diagnosed, and 90% of them are not identified until 15 years of age. The disease is caused by congenital aneuploidy of the sex chromosomes; the most usual karyotype being 47, XXY. Typical phenotype includes tall stature, hypergonadotropic hypogonadism, small ...