hrp0092p2-179 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Unusual Case of Patient with Klinefelter Syndrome with Shox Deletion Born to the Mother with Leri-weill Dyschondrosteosis

Krnic Nevena , Huljev Frkovic Sanda , Dumic Kubat Katja , Braovac Duje , Uroic Anita Spehar

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...