ESPE Abstracts

Introduction: Mutations in IGSF1 result in X-linked congenital central hypothyroidism, macroorchidism and a variable spectrum of anterior pituitary dysfunction, most commonly including hypoprolactinaemia. We identified a novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) in a 17 year-old adolescent, inherited from his heterozygous mother.Case: A novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) was identified by direct se...

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

Background & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

Background: Insulin remains the mainstay treatment for diabetes type 1(T1D), more recently several technological advances have been introduced to assist with the treatment. Continuous Subcutaneous insulin infusion (CSII) devices and continues glycose monitors (CGM) have gained a lot of popularity and are thought to help patients achieve better glycaemic control. HbA1c levels can be used to assess glycaemic control. There are conflicting reports on whether thos...

Aim: To assess the efficacy of faster aspart (FIAsp) in paediatric population with type 1 diabetes mellitus (T1DM) and insulin pumps in real-world settings.Methods: We conducted a prospective analysis of 16 children and adolescents with T1DM on insulin pump that switched from Aspart to FIAsp from September 2019 to June 2020. We performed within groups and between groups analyses in three time points: 3 months before FIAs...

Background: Deficiency of 21-hydroxylase (CYP21A2) is responsible of 90-95% of all cases of congenital adrenal hyperplasia (CAH). CYP21A2 converts 17OHprogesterone into 11deoxycortisol and is encoded by the CYP21A2 gene on chromosome 6p21.3, within the class III region of the highly polymorphic HLA histocompatibility complex. CAH refers to a group of autosomal recessive disorders. Nonclassic CAH (NCAH) is milder and more common, however it may not be identifie...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis caused by the deficiency of 21-hydroxylase which convert 17-hydroxyprogesterone to 11-deoxycortisol. A variety of mutations in one or more genes encoding enzymes essential for cortisol synthesis leads to a spectrum of disorders and disease severity. In general, complete or nearly complete enzymatic defects result in overt adrenal insufficien...

Background: Adrenal crisis is a life-threatening condition caused by either primary adrenal insufficiencyor hypothalamic-pituitary-adrenal (HPA) axis dysfunction, commonly due to chronic use of high-dose glucocorticoids. Clinical presentation, often with gastrointestinal symptoms (weakness, nausea, vomiting, epigastric pain) poses clinical challenges, sometimes leading to an incorrect diagnosis of gastroenteritis.Material:</stron...

Background: Childhood obesity is a major global and European public health problem. The need for community-targeted actions has long been recognized, however it has been prevented by the lack of monitoring and evaluation framework, and the methodological inability to objectively quantify the local community characteristics in a reasonable timeframe. Recent technological achievements in mobile and wearable electronics and Big Data infrastructures allow the engagement of Europea...