ESPE Abstracts

In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits...

Background: Congenital adrenal hyperplasia (CAH) is characterised by elevated adrenal androgens which can lead to virilisation of affected females.Objective and hypotheses: To outline clinical opinion on two controversial aspects of CAH management (antenatal dexamethasone and genital surgery of affected females) which was hypothesised would differ between regional centres.Methods: A survey was conducted via the Aus...

Standard management of Adrenal Insufficiency (AI) in children is with hydrocortisone (HC). Under or over-treating impacts on growth and quality of life. Until recently, treatment involved dissolving 10mg HC tablets in water; this is time consuming and may give inaccurate doses. We have offered HC granules (Alkindi) to all new patients ≤6-years since January 2019 and 22 patients who were currently dissolving HC tablets. We have reviewed our patients’ experience with Al...

Introduction: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...

Background and Aims: In patients with congenital hyperinsulinism (CHI), recurrent hypoglycaemia can lead to longstanding neurological impairments. At present, glycaemic monitoring is with infrequent fingerprick tests; a practice which can miss hypoglycaemic episodes between tests. Continuous glucose monitoring (CGM) is a promising alternative method which has the utility to identify risk and patterns of hypoglycaemia. Although CGM is well established in type 1...

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

Background: Turner syndrome, characterized by complete or partial absence of second sexual chromosome, is responsible for phenotype of variable severity.Objective and hypotheses: The main objective of this work is to describe the evolution of the age at diagnosis of Turner syndrome over time. We also performed a phenotypic and genotypic description and we assessed evolution over time.Method: It is a monocentric descriptive observat...

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....

Introduction: Easypod-connect™ for childhood growth disorders is a unique connected system that enables the transmission of injection adherence information for recombinant human growth hormone (r-hGH). Although this system has the potential to facilitate greater adherence, observational studies have shown declining adherence over prolonged periods when used without additional support. Supplemental nurse practitioner support has been envisaged but not inv...

Background: Steroidogenic Factor 1 (SF-1), encoded by NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene, is a transcriptional factor that is primordial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance, from adrenal insufficiency to gonadal dysgenesis and oligospermia-azoospermia in 46,XY patients.Obj...