ESPE Abstracts

Background: Prolonged severe hypothyroidism due to Hashimoto’s thyroiditis (HT) is a rare cause of pituitary hyperplasia (PH) in children. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. We report a case series of patients with growth impairment diagnosed...

Introduction: The annual incidence of severe influenza infections reaches 5 million cases globally. Patients with diabetes mellitus (DM) are known to suffer more severe influenza infections, with increased mortality. Despite vaccination being recommended as standard of care, vaccination uptake rates have remained low for our DM patients. We undertook a quality improvement (QI) initiative to improve influenza vaccination uptake rates in our paediatric DM clinic...

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...

Introduction: Our study aimed to describe the clinical profile of children with central precocious puberty (CPP) presenting to a single tertiary centre, and to determine the factors that would lead patients and families to pursue treatment with gonadotrophin releasing hormone (GnRH) agonist as well as the predictors of a more favourable final adult height in this cohort.Methods: We conducted a retrospective medical chart...

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

Somapacitan is currently the only long-acting GH approved by FDA, PDMA and EMA to treat GH deficiency (GHD) in both children and adults. Similar efficacy, safety, and tolerability in children with GHD was demonstrated for somapacitan (0.16 mg/kg/week) compared to daily GH (0.034 mg/kg/day) in the global phase 3 REAL4 study, which was conducted in 20 countries within Asia (excluding China), Europe, and North America. Efficacy and safety of somapacitan in Chinese children with G...

Introduction: Recombinant human growth hormone (rhGH) has been pivotal in growth hormone (GH) therapies for children since its approval for paediatric growth hormone deficiency (PGHD). The recent introduction of long-acting growth hormone (LAGH) represents a further advancement in GH therapy, demonstrating equal efficacy compared to daily GH with the added benefit of decreased injection frequency. Clinical trials have underscored the effectiveness and safety o...

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...