hrp0092p3-64 | Diabetes and Insulin | ESPE2019

De Novo Mutation of ABCC8 Gene in a Child with MODY Developed at 25 Months of Age

Lyeon Kim Goo , Heon Kwak Soo , Yu Jeesuk

Introduction: Recently the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. Therefore, it is useful to conduct genetic study in children with type 2 feature to understand underlying cause of glycemic dysregulation as well as for the management of diabetes mellitus.Case</stron...

hrp0098p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Growth hormone treatment in a case of cleidocranial dysplasia with growth hormone deficiency

Jun Jung Hyeon , Lyeon Kim Goo , Yu Jeesuk

Backgound: Cleidocranial dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities affecting various parts of the body, including the skull, clavicles, and long bones. The responsible gene is RUNX2 which plays a crucial role in the development of bone and cartilage. Sometimes growth hormone deficiency (GHD) can be associated with short stature in CCD.Case: A female patient was brought to...