Endocrine Abstracts

Background: Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion causing persistent hypoglycaemia. In around 50% of the patients with CHI, the underlying molecular genetic etiology is unknown. Ca2+/calmodulin-dependent protein kinase 2 (CaMKK2) belongs to the Serine/Threonine protein kinase family. Alternative splicing results in multiple transcripts encoding distinct isoforms. We report, for the first time, CaMKK2 mutati...

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

Introduction: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (M...

Background: Adolescent polycystic ovarian syndrome (PCOS) is being diagnosed more frequently as the prevalence of childhood obesity increases. Adolescent PCOS has been associated with low birth weight (LBW), exaggerated adrenarche (EA) and metabolic syndrome in Mediterranean populations. This study describes the clinical phenotype of a cohort of northern European girls.Methods: A retrospective study of adolescents with PCOS, diagnosed according to the Ro...

Background: Hypocortisolaemia is common in neonates1 and infants following cardiac surgery.2 In critically ill children with other pathologies, hypocortisolaemia may result from accelerated cortisol metabolism and reduced protein binding. However, the timing and frequency of normalisation of cortisol concentrations following infantile critical illness is poorly described.Objective: To describe the natural history of hypocortisolaemi...

Background: Up to 50% of children treated with inhaled corticosteroids (ICS) have biochemical evidence of adrenal insufficiency (AI). Episodes of adrenal crisis (AC) are extremely rare.To address the discordance between the prevalence of biochemical AI and AC, we re-examined the biochemical definition of AI during ICS therapy. We then investigated the utility of early morning salivary cortisol (EMSC) and cortisone (EMSCn) for the identification of patien...

Introduction: Ischaemic heart disease occurs seven times more frequently in women with Turner syndrome (TS) than the normal population. Adult TS subjects have raised serum cholesterol (Ch). In our service we measure Ch, apolipoprotein A1 (APA) and B (APB) annually in TS patients aged >5 years as APB:APA in childhood is a strong predictor of cardiovascular risk in adult life. Little is known about lipid profiles or the effects of GH or oestrogen (E2) in childhood...

Introduction: Recently, the factory calibrated FreeStyle Libre (FSL) flash glucose monitoring system has been introduced for use in patients with diabetes mellitus. We assessed the accuracy of FSL compared to the finger prick capillary blood glucose (CBG) over a 2 week period in patients with congenital hyperinsulinism (CHI) and assessed the parents’ experience of using FSL.Methods: About 346 episodes of CBG along with corresponding swipe FSL readin...

Introduction: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...

Background: Congenital hypopituitarism (CH) is characterised by the deficiency of one or more pituitary hormones and can present alone or in association with complex disorders. Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion despite hypoglycaemia that can occur in isolation or as part of a syndrome. The underlying genetic etiology causing the complex phenotype of CH and CHI is unknown.Patient and Methods: A female baby bor...