ESPE Abstracts

Background: Small for gestational age (SGA) children, especially those with postnatal catchup growth, have increased risk of insulin resistance and adult metabolic diseases. Adipokines produced by adipose tissue play crucial role in fetal growth and early postnatal life. Low adiponectin (adipokine) is marker of insulin resistance.Objective: To evaluate adiponectin levels in term SGA at 15–18 months age and its relationship with postnatal catchup gro...

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

Background: Craniopharyngioma is a rare, suprasellar tumour, which, together with associated surgery or radiotherapy, results in damage to the hypothalamus and severe obesity in approximately 50% of cases. The multi-factorial mechanisms underlying the development of obesity in craniopharyngioma are not well understood. Hypothalamic damage in craniopharyngioma has been associated with dysfunctional parasympathetic nervous system activity leading to altered gluc...

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

Background: Over the last decade, and in light of the COVID-19 pandemic, there has been a substantial increase in the use of digital health tools to track growth and manage growth disorders in children. Paediatric endocrinologists acknowledge the usefulness of these tools in clinical decision making but lack confidence and skills to use them. Atique et al. designed a Massive Open Online Learning Course (MOOC) to increase digital health literacy, and identified...

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

Introduction: Childhood overnutrition is a global challenge of public health. Both WHO and different countries have prepared BMI charts for pediatric population. Proper assessment of nutritional status is particularly important in children with type 1 diabetes (DM1). Due to Russian aggression, some Ukrainians with DM1 have to continue treatment in Poland.Aim: to compare HbA1 concentrations and the incidence of overnutrit...

Introduction: Vitamin D may be considered as a hormone of prohormone of pleiotropic effects. Seasonal variability of insolation affects its synthesis in humans. In our latitude, vitamin D deficiency is widespread. In 2018, updated recommendations for vitamin D supplementation were published in Poland by Rusi&nacute;ska et al. In 2020, SARS-CoV-2 pandemic lockdown was introduced, with suggestions of protective anti-viral vitamin D role.<p class="ab...

Differences of sex development (DSD) are congenital conditions with discordance between chromosomal, gonadal and/or anatomic sex. DSD can be syndromic or non-syndromic based on the presence or absence of somatic anomalies, respectively. Variants in several genes have been identified in association with errors of testis determination and male genital differentiation. However, despite technological advances, a genetic diagnosis is not achieved in nearly 50% of individuals presen...