ESPE Abstracts

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

Primary adrenal insufficiency (PAI) is an important diagnosis to make as it is potentially life-threatening and requires urgent treatment. Although most paediatric endocrinologists have experience of more common conditions such as congenital adrenal hyperplasia (CAH) and autoimmune adrenal insufficiency, more than 30 other genetics causes of PAI exist, as well as physical causes such as haemorrhage. Reaching a specific diagnosis for some of these rarer conditions can have impo...

Congenital adrenal insufficiency is a potentially life-threatening condition that can present soon after birth in many different ways. The classic presentation is a salt-losing crisis due to mineralocorticoid insufficiency, often between a week and two of life, but babies with predominant glucocorticoid insufficiency can present with other features such as prolonged jaundice, hypoglycaemia and hyperpigmentation. Most children with congenital adrenal insufficiency present to em...

Steroidogenic factor-1 (SF-1, NR5A1) is a key regulator of adrenal and gonad development, and controls transcription of many genes in these endocrine axes. A role for SF-1/NR5A1 in human endocrine conditions was first established 15 years ago when rare individuals with adrenal hypoplasia and 46,XY DSD (testicular dysgenesis, Müllerian structures) were reported. Although it was felt that adrenal failure would be a key feature of SF-1 disruption, in the pa...

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

Context: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require hydrocortisone replacement from birth. Continuous monitoring of therapy during growth is necessary. Until now, children were dependent on off label use with divided hydrocortisone tablets or pharmacy compounded capsules. A licensed paediatric formulation that allows accurate dosing down to 0.5mg is now available.Objective: ...

Introduction: Patients with congenital adrenal hyperplasia (CAH) require life long glucocorticoid (GC) therapy. In CAH, the adverse effect of GC on bone health (BH) may be counteracted by the effect of modest elevations in adrenal androgens.Aim: To examine relationships between BH index (BHI) SDS, calculated by BoneXpert on bone age (BA) x-rays, BA, hydrocortisone (HC) dose (mg/m2 per day), and mean 17-hydroxyprogesterone (17-OHP) concentratio...