hrp0098p2-174 | Growth and Syndromes | ESPE2024

A Chinese case report of X-linked acrogigantism caused by Xq26.3 microduplication

Chen Jiahui , Qin Miao , Hu Xuyun , Li Yuchuan , Wu Di

Objective: To report the clinical characteristics, diagnosis, treatment and genetic analysis of a case of X-linked acrogigantism(X-LAG).Methods: The clinical information of a 4-year-old girl due to “growth acceleration for 2.5 years, breast overflow for 3 months, accompanied by intermittent convulsions twice” was retrospectively reported, and peripheral blood DNA was collected for whole exome sequencing and e...