ESPE Abstracts

Background: In diabetic patients vitamin D seems to play a role not only on bone metabolism, but also on many other organs and/or systems, such as lipid profile, cardiovascular system, etc. We decided to evaluate whether the celiac disease antibodies in type 1 diabetic patients have a connection with 25-OH vitamin D status.Materials and Methods: 78 young patients with type 1 diabetes were evaluated with mean age of 14&#1...

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

Introduction: Indonesia, an archipelago with approximately 17,000 islands and 34 provinces has around 4.8 million babies born annually, yet only 2-3% undergo newborn screening (NBS) resulting in high preventable disease burdens. Currently, the country only has 1 newborn screening project which will be relaunched and aimed to cover 30-40% of babies. Health policy plays a huge role in determining the day-to-day lives of children, families, and health professiona...

Prader-Willi syndrome (PWS), a multisystem disorder, results of the absence of expression of paternal genes from chromosome 15q11.2-q13; it occurs with the prevalence of 1/10000-1/30000 in different populations. In real clinical practice PWS still remains a challenge for doctors, especially in resource-limited settings. We describe clinical course in 10 pediatric PWS patients (3M; 7F) aged 7,4±3,3 years (1,7÷12,3), all have microdeletion of paternally inherited 15q11....

Background: The reasons for tall stature, defined as a height above the 97. percentile or above 2SD from the mean, are heterogeneous. Besides non-pathogenic forms like familial tall stature or constitutional advance of growth there are pathogenic forms like obesity, growth hormone excess, hyperthyreoidism, precocious puberty or some genetic disorders and syndromes that need to be concerned.Case Report: We report on a 14 ...

Introduction: Deficiency of growth hormone (GH) in children is manifested by pronounced stunting (below -2 sigmal abnormalities (SD)). Frequency of occurrence varies from 1:4000 to 1:10000 newborns.Objective: To assess the effectiveness of treatment by comparing the dynamics of growth of children with isolated growth hormone deficiency (IGHD) and of children with panhypopituitarism (PHP).Ma...

Introduction: Dumping Syndrome (DS) has been recognized as a major complication of Nissen fundoplication in young children. Althougth other causes have been recognized. We describe a children with esophageal atresia who presented with late DS caused by a surgical complication, Dumping and Horner syndrome were diagnosticated after his surgery.Case description: A male newborn with prenatal diagnosis of right Aortic Arch was born by vaginal delivery, radiol...

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

Background: COVID-19 restriction measurements have enhanced the obesity status in the pediatric population which might further contribute to obesity related glucose-insulin metabolism alterations. Therefore, we retrospectively compared anthropometric and OGTT data on obese children during the 13 years before and during the COVID-19 pandemic period.Subjects/Methods: Data from 741 obese/overweight children were retrieved a...

Introduction: Growth Hormone Deficiency (GHD) represents the most common hormone deficiency during childhood accounting for 3% of causes of short stature. Although growth hormone (GH) replacement therapy is available, several studies have shown a different response in terms of height. Therefore, some reports have tried to characterize predictive factors able to define growth gain during treatment.Objective: Therefore, th...