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...

Background: Recombinant human growth hormone (r-hGH) therapy is an effective treatment strategy for children experiencing growth disorders. However, poor adherence to long-term r-hGH therapy can lead to suboptimal catch-up growth. Digital health solutions, such as easypod® connect ecosystem, can facilitate adherence to r-hGH therapy in these patients.Aim: To investigate the adherence to r-hGH therapy administered via...

Background: Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. The phenotype shows variable expressivity and is related to the size of the deletion. XY sex reversal is a relatively rare type of DSD (disorder of sexual development). Terminal region of short arm chromosome 9p (9p24.3 region) contains 3 types of DMRT genes (DMRT1-3). DMRT1 gen acts in syner...