ESPE Abstracts

Background: The IGF1 receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (15q26.3). Heterozygous inactivating mutations of the IGF1R gene cause intrauterine and postnatal growth failure and mental retardation.Objective: The purpose of this research is to determine the most effective GH treatment for patients with IGF1R haploinsufficiency due to heterozygous deletion.Method: We investigated the clinical course o...

Background: The effects of metabolic memory highlight the importance of good glycaemic control following diagnosis of type 1 diabetes (T1D). There is relative insulin resistance at diagnosis, particularly in the presence of ketonaemia. Local prescribing guidelines reflect this with higher insulin starting doses with ketonaemia.Objective and hypotheses: Current insulin dosing guidance for children with newly diagnosed T1D appeared insufficient to achieve ...

Background: The intelligence prognosis of congenital hypothyroidism (CH) is remarkably improved by early detection and optimal levothyroxine (LT4) treatment. Some groups have reported that initial LT4 overtreatment results in a subsequent decrease of cognitive function. In universal guidelines, an initial dose of 10–15 μg/kg per day of LT4 is recommended. However, there are cases of LT4 overdosing.Obj...

Background: Obesity represents one of the most challenging public health problems of our century. According to the World Health Organization, there is a need to create reliable monitoring and behavioral systems, and to investigate their effectiveness in preventing childhood obesity.Objective: To evaluate the BigO behavioral indicators in a pediatric population in Greece.Methodology: The study was c...

Background: Due to the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with DM1 0-17 y.o. in 2019 was 9860 (1 in 769), with Dm2 36 (1 in 210,547) with neonatal DM (NDM) 66 (1 in 115,000), with MODY 40 cases (1 in 114,844). The diabetes prevalence rates increased from 9.3 (per 1000) in 2007 up to 12,57 (per 1000) in 2018. CSII is well established in pediatric patients with DM1. Most studies focus on such parameters as HbA1c levels...

Background: Differences in sex development (DSD) comprise a large group of rare, mostly genetic disorders along the path of human sexual development. Since the Chicago Consensus, health care providers group them in sex chromosome DSD, 46,XY and 46,XX DSD with subgroups regarding their effect on sex hormone synthesis, action or excess, on gonadal development, and others. Incidence of rare DSD is not well established despite public interest.<p class="abstext...

In children and adolescents, vitamin D deficiency negatively affects muscle physiology, exposing them to increased muscle damage and pain, stress fractures, and tendon structures. In addition, free radicals released when the body is exposed to oxidative stress after exercise can cause DNA damage. Vitamin D plays an important role in removing these radicals. The purpose of this study is to investigate the relationship between physical activity and 25- OH vitamin D in obese chil...

Objective: evaluate insulin resistance (IR) in children and adolescents with exogen-constitutional obesity (ECO) depending on the stage of sexual development.Materials and research methods: 100 children and adolescents with ECO of the UzBek population from 6 to 16 years were observed (mean age 11.7 ± 0.25 years). The control group consisted of 71 healthy children of the appropriate age (mean age 11.1 ± 0.33 yea...

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...