ESPE Abstracts

Protein arginine methyltransferase 7 (PRMT7), a member of a family of enzymes that catalyse the transfer of methyl groups from S-adenosyl-L-methionine to nitrogen atoms on arginine residues, is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 12 patients with homozygous/compound heterozygous mutations in PRMT7 gene have been described defining the ...

Background: epidemiological studies reported an increased incidence of central precocious puberty (CPP) during the last year compared to previous year. Confinement measures and consequent daily routine modifications applied to contain coronavirus infectious disease-19 (COVID-19) contagion have been proposed as a cause of this phenomenon. Our study aims in investigating changes in CPP rates in a tertiary paediatric endocrinology outpatient clinic of South Italy...

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age, and is characterised by chronic inflammation and in most cases by insulin resistance besides ovulatory dysfunction and hyperandrogenism. HMGB1 is a small protein with cytokine activity that can activate nuclear factor kappa light chain enhancer of activated B cells (Nf-kB), and signals through the Receptor for advanced glycation end products (RAGEs) and through the T...

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

Achondroplasia is the most common skeletal dysplasia caused by a gain of function of the fibroblast growth factor receptor 3(FGFR3) that impairs endochondral ossification, exiting in short stature and altered bone microarchitecture. Although fractures and reduced bone mineralization are not comorbidities frequently reported, specific normative DXA data are lacking. Aim of the study was to assess bone density parameters in an Achondroplasia cohort. Fifty-seven patients (Female-...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

The diagnosis of early thelarche is common in Pediatric Endocrinology consultations, with many cases lacking an organic cause. It can either spontaneously resolve, remain stable, or progress to precocious puberty. Early exposure to endocrine-disrupting environmental pollutants (EDs) with estrogenic and/or anti-androgenic effects during pregnancy or childhood may affect the timing of thelarche onset and/or puberty in girls. Further research is needed to better understand the in...

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...