ESPE Abstracts

Background: Currently, the diagnosis of GH deficiency (GHD) in infants and young children is based on the assessment of GH serum levels either during hypoglycaemia or after pharmacological stimulation tests. However, GH cut-off values have not been standardized and provocative tests may be unsafe in this age range.Objective and hypotheses: Brain MRI may replace GH measurements in diagnosing GHD in infancy and young childhood.Method...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) is dramatically increasing among children worldwide. The gold standard for diagnosis is the liver biopsy. Reliable serum markers are lacking. Recently, circulating miRNAs have been studied as biomarkers of disease progression. Specifically, miR-122 was proposed as predictive marker for liver disease in adults, while no data are available for children.Objective and hypotheses: To inves...

Background: Osteocalcin plays a role in glucose metabolism in mice, but its relevance in human energetic metabolism is controversial. Few data are available on osteocalcin in pediatric patients with T1DM. The aim of our monocenter observational study was to evaluate the role of the main remodelling bone biomarkers in the regulation of glucose metabolism at the time of type 1 diabetes diagnosis and to evaluate their potential relationship with insulin sensitivi...

During the COVID-19 pandemic, a significant increase in Central Precocious Puberty(CPP) has been observed worldwide. The reasons for this phenomenon are yet unclear. In order to evaluate if fear, stress and coping strategies used by children and parents when dealing with negative emotional situations and health issues might have acted as triggers for this phenomenon, we administered specific questionnaires to girls who had a diagnosis of CPP before and after the COVID-19 relat...

The overall remission rate after 2 years of anti-thyroid drug treatment (ATD) in pediatric patients with autoimmune hyperthyroidism (AI) is 20-30%. The European Thyroid Association (ETA) recommends longer duration of ATD therapy in patients who have low likelihood of remission. Older age, female sex, ethnicity, small goiter, mild biochemical derangement at diagnosis, lower TSH receptor antibodies (TRAb) titer, history of other autoimmune conditions, duration of ATD treatment, ...

Inherited disorders of biogenic amine metabolism are rare neurometabolic disorders caused by defects in neurotransmitters (dopamine, serotonin, norepinephrine, epinephrine). Dopamine deficiency leads to hyperprolactinemia. Prolactin blood level is used as peripheral indirect biomarker of central dopamine deficiency and can help in adjusting the therapy dosage, which primarily consists of using L-dopa. However, patients may become refractory to L-dopa and they could present hyp...

Background: Achondroplasia is the most common form of skeletal dysplasia, caused by activating mutations of FGFR3 gene. In the previous years the management of achondroplasia was focused on prevention and treatment of complications related to the altered cartilage maturation. Therapeutic spectrum of achondroplasia was broadened by approval of Vosoritide (VOXOZOGO®), a synthetic recombinant analogue of C-natriuretic peptide (CNP). The interaction between ac...

Introduction: Neonatal hyponatremia with hyperkalemia is an uncommon but potentially life-threatening occurrence. Congenital adrenal hyperplasia is often suspected in these cases, but among the alternative diagnoses, it is important to consider pseudohypoaldosteronism, a rare syndrome characterized by increased aldosterone secretion associated with clinical signs of hypoaldosteronism.Case presentation: A 21-day-old femal...

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...