ESPE Abstracts

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...

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...

Objective: We aimed to examine the auxological findings of the girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the Gonadotropin-releasing hormone analogs (GnRHa) treatment and to investigate the effect of related factors on the height gain of those patients.Methods: This study was designed as single-center, descriptive, cross-sectional retrospective study. A total of 43 patients who were di...

Introduction: Thyrotoxicosis is a clinical manifestation that arises due to excessive amounts of circulating thyroid hormone in the body with a subsequent hypermetabolic state. The condition has multiple aetiologies of which Graves’ disease accounts for the most cases in children and adolescence. Symptoms in children are often more obscure than those seen in adults which may contribute to diagnostic delay of the condition. The aim of the study is to asse...

Introduction: Differential diagnosis of thyroid hormone resistance (beta) and TSHoma should be made in patients with high free thyroxine (f-T4) and free triiodothyronine (f-T3) and non-suppressed thyroid stimulating hormone (TSH) levels. The aim of this study was to present the results of etiological research in a patient with Down syndrome who was clinically euthyroid and had high levels of f-T4, f-T3, normal TSH levels.Case</st...