ESPE Abstracts

Objective: Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21, which also be called Xp21 contiguous gene deletion syndrome. Patients with CGKD present with features characteristic for adrenal hypoplasia congenita (AHC), glycerol kinase deficiency (GKD), Duchenne muscular dystrophy (DMD) and sometimes intellectual disability or hyper...

Background: Objective to determine the efficacy of short-term rhGH treatment on metabolic indices in TGHD patients by comparing the changes in blood glucose and lipid levels before and after rhGH replacement therapy.Methods: The levels of metabolic indices (AST, ALT, TC, TG, HDL-C, LDL-C, FBG, GA, and URIC) in their basic state in TGHD patients were recorded, and differences in these levels between the TGHD and control g...