ESPE Abstracts

Background: Fibrous dysplasia (FD) is a rare bone disorder characterized by the proliferation of fibrous tissue within the bone, leading to pain, deformity, and an increased fracture risk. While management primarily focuses on symptomatic relief, surgical interventions, calcium supplementation, and vitamin D therapy, bisphosphonates have been used as a therapeutic option in children. However, studies of bisphosphonate efficiency have shown inconclusive results...

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: Iodine plays a priviledged role in the human body, allowing thyroid hormones syntesis, necessarry for appropriate energy levels for an active life. In children it plays role in early brain development and somatic growth, bone and pubertal maturation. The overall picture of iodine supply and eradication of Iodine Deficiency Disorders (IDD) is still cause of concern. The iodine status of regions is assessed by median urinary iodine concentrations (UI...

Introduction: Small for gestational age (SGA) is a common condition affecting around 10% of all newborns, and it is associated with an increased risk of short stature and other health problems later in life. Growth hormone deficiency (GHD) is a well-known cause of growth failure in children, and it is estimated to affect approximately 1 in 4.000-10.000 children. However, the prevalence of GHD in SGA children with short stature is not well established. Early de...

Background: Growth response in growth hormone deficient children during growth hormone (GH) replacement therapy rarely fulfil our projections and patient’s expectations. We here report 3 cases with outstanding growth response.Case reports: First patient was diagnosed as gluten enteropathy in early childhood, but the diet did not improve his growth. At age of 7 years the diagnosis of isolated growth hormone deficiency (GHD) was established and GH sub...

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...

Background: Early detection of diabetic nephropathy is of great importance. Renal functional reserve (RFR) is the difference between glomerular filtration rate (GFR) in basal conditions and GFR after a protein meal.Objective: To examine renal functional reserve in children with type 1 diabetes mellitus (T1D) in order to detect diabetic nephropathy at early stage.Method: Case control study included patient...

Introduction: Since 1960, enlarged polycystic ovaries associated with hypothyroidism, delayed bone age and precocious puberty are recognized as Van Wyk and Grumbach syndrome. Although it is rare entity, it should be considered in differential diagnosis of the enlarged polycystic ovaries.Case: An eleven-year-old girl was presented with sudden onset of abdominal pain and vomiting. A large mass with multiple cysts was seen ...