ESPE Abstracts

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflam...

Background: Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare disease belonging to a heterogeneous group of mitochondrial cytopathies. KSS is caused by deletions and/or duplications in the mitochondrial DNA, which lead to the dysfunction of the respiratory chain and to disorders in tissues with a high energy demands (muscle, nervous system).Case presentation: The girl was admitted to the hospital at the age of 13 years with the suspision of KSS. Progre...

Background: Conflicting outcomes have been reported about the role of low IGF1 levels in predicting irradiation-dependent GHD in CCS. IGF1 <−2SD had a sensitivity between 28 and 47% in different studies, but these results were drawn from small samples of patients or from mixed cohorts including patients with GHD due to different aetiologies.Objective: Our aim was to analyse the screening role of low IGF1 levels in CCS at risk of developing GHD ...

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

Background: Asprosin is an adipokine involved in glucose homeostasis and its plasma levels physiologically increases in fasting conditions and decreases with refeeding. In non-diabetic children and adolescents with obesity, insulin resistance (IR) and impaired fasting glucose (IFG) seem to influence the physiological variation in meal-related asprosin levels 120 minutes after an oral glucose load (Corica et al. doi:10.3389/fendo.2021.805700). No data ...

Background: The typical biochemical phenotype related to obesity, that is high serum thyrotropin (TSH) within normal range, low/normal free thyroxine (FT4) and increased free triiodothyronine (FT3) levels, can be interpreted as a resistance to thyroid hormones. It is unclear the role played by thyroid hormones in the pathogenesis of metabolic derangement associated with obesity.Aim: To investigate the association between...

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Background: Self-limited delayed puberty (DP) is an extreme variant of normal pubertal timing and it often clusters in families. Although it is highly heritable and is the most common cause of delayed puberty, little is known about the genetic control. GnRH neuronal biology has been implicated as a key element in the pathogenesis of DP. By focusing on genes involved in GnRH neuron development, migration and function we may understand more about the genetic bas...