ESPE Abstracts

Introduction: According to World Health Organization, in 2022 over 429 millions of children were obese. Insulin resistance is a resistance to the effects of insulin on glucose metabolism and measured by Homeostasis model assessment- Insulin resistance index (HOMA-IR). Previous studies suggested a correlation between body mass index (BMI) for age and sex with HOMA IR and advised using BMI as a surrogate marker for insulin resistance.<stro...

Background: The Xp21 contiguous gen deletion syndrome is a rare disorder which is characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and Duchenne muscular dystrophy. It is caused by partial deletion of Xp 21. On Xp21 several genes are located contiguously, such as NR0B1/DAX1, dystrofin gen and gene for glycerol kinase, and the clinical features depend on the size of the deletion. The major clinical manif...