ESPE Abstracts

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is associated with Covid-19. MIS-C was first reported in April 2020 with similar symptoms to Kawasaki disease and has several treatment options, one of which is glucocorticoids.Autopsy studies in Covid-19 patients have shown degenerative adrenal changes.It has been reported that rarely Covid-19 may affect adrenal function and cause both primary and secondary adrenal insufficiency.Here we prese...

Introduction: β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East (1) Transfusion programs and chelating therapy have greatly extended the life expectancy of patients (2). This has led to an increase in the prevalence of endocrine complications, linked to iron overload (3) including abnormalities in gluco...

Giant prolactinomas are rare tumours, with a prevalence of 0.5–4.4% among all pituitary tumours. In the literature, relatively few series describing their management and outcomes are available; moreover, only individual case reports of giant prolactinomas in children have been documented. We report a 10-year-old boy presented with painless progressive vision loss, insidious in onset, and bitemporal headache of six mounths duration. On physical examination; height: 134.2 ...

Purpose: Therapeutic goals in the adolescent male with hypogonadotropic hypogonadism(HH) are virilization, optimal adult height, normal bone mass, body composition, psychosocial development, and fertility. Until recently, only testosterone was used to treat adolescent males with HH. However, this treatment did not cover all treatment goals and adverse effects on fertility were reported. Therefore, gonadotropin therapy can be used in addition to testosterone in...

Introduction: Thyroid dyshormonogenesis (TD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. It presents clinical heterogeneity, from subclinical hypothyroidism (SH) to goitre. The clearer understanding of the pathways and enzymatic activities involved in the synthesis of thyroid hormones has allowed us to identify an important number of causal genes. Defective organification...

Background: A few patients with NS have been reported to harbour pathogenic mutations in LZTR1 gene. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. Mutations in this gene could hence lead to NS phenotype. Three patients with mutations in this gene and compatible NS phenotype are herein described.Case 1: A 5 year-old boy with bilateral cryp...

Introduction: Studies about pubertal onset and the menarcheal age in girls with the antecedent of idiopathic premature adrenarche (IPA) are limited and with discordant results. For these reasons, we created a cohort of girls with the diagnosis of IPA. The objectives of our study were: a) to know the age of pubertal onset; b) to evaluate menarcheal age; c) to determine the growth rate in the first two years after the IPA diagnosis; d) to collect adult height da...

Introduction: Brown adipose tissue (BAT) secretes molecules capable of modulating systemic metabolism. Growth hormone (GH) has hyperglycemic action, produces lipolysis and increases muscle mass. However, there are no human studies on its effect on the BAT and lipidome.Aim: To evaluate the effect of GH on BAT and lipidome in small for gestational age (SGA) patients and its relationship with adherence to treatment.<p c...

Introduction: Rabson-Mendenhall Syndrome (RMS) is an autosomal recessive, extremely rare, serious insulin resistance syndrome that occurs as a result of mutation in the insulin receptor (INSR) gene. Pathogenic variants in the INSR gene cause a broad spectrum of inherited insulin resistance syndromes. Here, a male case who presented with the complaint of diffuse acanthosis nigricans and was diagnosed with RMS is shared. Case Repor...

Background & Aims: Hypoglycaemia is a constant threat for all patients with congenital hyperinsulinism (CHI) and, left untreated, can lead to neurological damage and impaired development. To improve glycaemic monitoring, self-monitoring-blood-glucose (SMBG) is increasingly being replaced by Continuous Glucose Monitoring (CGM) with potential to identify illness patterns and treatment responses although with unproven benefit for patients and families. Explor...