Endocrine Abstracts

Introduction: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates, infants and children with an incidence of 1/25000-1/50000 live births. HNF4A and HNF1A mutations lead to maturity onset diabetes of the young (MODY 1 and 3 respectively) with a potential for causing CHI in the newborn period. Whilst HNF4A mutations causing CHI is well known, reports on CHI due to HNF1A mutations are very limited.</...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...

Introduction: Mutations in SLC29A3 lead to PHID and H syndromes, familial Rosai Dorfman Disease and Histiocytosis-lymphadenopathy plus syndrome. PHID syndrome is associated with short stature, pubertal delay, endocrine and exocrine pancreatic insufficiency. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes and cardiomyopathy.Case report: A 12-year-old girl with PHID syndrome presented with shortness ...

Introduction: Testicular tumours are very rare in children and usually present as painless enlargement of the testis. Germ cell tumours account for the majority of testicular tumours in young people and embryonal carcinomas are a common component of germ cell tumours.Case report: A 9.8 year old boy presented with the development of pubic and facial hair over a period of 2 years. He had a growth spurt (Height +3 SDS and bone age advanced to 14.8 years) an...

Introduction: Beckwith-Wiedemann syndrome (BWS) is characterized by hyperinsulinaemic hypoglycaemia (HH), overgrowth, tumour predisposition and congenital malformations. Commonly, BWS is caused by epigenetic or genomic alterations, which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. Rarely (~1%), paternally inherited duplications of 11p15 can result in BWS phenotype. We describe the first case of BWS associated with a paternally inherited dup...

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia & permanent neurological deficit if not managed appropriately. Kenotic hypoglycaemia (KH), a diagnosis of exclusion, is by far the most common form of hypoglycemia in children between 1–5 years of age characterized by recurrent episodes of hypoglycaemia and ketosis.Aim: To ide...

Introduction: Obesity is a chronic and complex disease which is considered as one of the major health challenges with short- and long-term health consequences. Childhood obesity is defined as having a body mass index (BMI) at or above the 95th percentile for age and gender after two years of age. The glucagon-like peptide-1 (GLP-1) receptor agonist, liraglutide, is proven to promote weight reduction when used at a higher dose of 3.0 mg once daily. This study a...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from enzyme deficiencies in biosynthetic pathways of the adrenal. The most common enzyme deficiency, 21-hydroxylase deficiency, results in cortisol deficiency, androgen excess and variable aldosterone deficiency. Current guidelines recommend a standard dose short Synacthen test (SDSST) is performed between 24 and 48 hours of life, with measurement of corti...

Introduction: Childhood obesity remains a major health concern and there are a number of serious complications associated with it. These include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). Glucagon-like peptide 1 (GLP-1) therapy has shown promising results for weight loss in adults and has recently been approved for the use in the treatment of childhood obesity for ad...

Background: Cystic Fibrosis related diabetes affects 40-50% of adults with cystic fibrosis (CF). This can significantly affect pulmonary function and life expectancy. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. Previous data highlight that glucose regulation may be altered on commencing this treatment.Methods: Eight children and young people (CYP), aged 14 (12-15) years, who were diagnosed with CFRD aged 12.8...