hrp0097p1-307 | Growth and Syndromes | ESPE2023

A unique combination of Klinefelter syndrome and Three M Syndrome in a boy with short stature

Lee Mi-Seon , Lee Rosie , Lee Sang-Eun , Kwak Na-eun , Kwon Soon-Hak , Moon Jung-Eun

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...