hrp0098p3-175 | Growth and Syndromes | ESPE2024

A rare case of short stature in a patient with Klinefelter Syndrome from Kazakhstan

Medegali Karlygash , Rakymzhanova Aray , Bolatbek Kassiyet , Rakhimzhanova Marzhan

Klinefelter Syndrome (KS), marked by an extra X chromosome (47, XXY karyotype), is the most prevalent sex chromosome disorder in males, appearing in about 0.2% of male births. [1] We present a rare case of Klinefelter Syndrome (KS) characterized by an atypical short stature and growth hormone deficiency Case presentation: 16-year-old male with Klinefelter Syndrome (47, XXY karyotype) presented for evaluation due to significant developmental delays and an unusually short statur...