Searchable abstracts of presentations at key conferences in endocrinology

ea0058pens1.1 | (1) | BSPED2018

Case study – polycystic kidney disease and hyperinsulinaemic hypoglycaemia

Morgan Kate , Shah Pratik

This case study presentation formed the summative assessment aspect of “The principles of care for the child and young person in Endocrinology” module at London Southbank University. Hyperinsulinaemic Hypoglycaemia (HH), is characterised by the inappropriate secretion of insulin from the pancreatic β-cells in relation to the blood glucose concentration, and is the most common cause of severe and persistent hypoglycaemia in infancy and childhood. Approximately on...

ea0058p011 | Bone | BSPED2018

Congenital hyperinsulism of infancy in a child with autosomal dominant hypocalcaemia type1 due to an activiting calcium sensing receptor mutation

Gevers Evelien , Martinez Ana Sastre , Shah Pratik

Introduction: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laringospasm and, seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Case report: A female infant, born at term from non-consanguineous parents, presented on D2 with persistent asymptomatic hypoglycaemia requirin...

ea0051p037 | Pituitary and growth | BSPED2017

Congenital hypopituitarism and hyperinsulinaemic hypoglycaemia: a challenging association

Pradeep Sangeetha , Guemes Maria , Dattani Mehul , Shah Pratik

Introduction: To date, few cases with both congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) have been reported in the literature. We now report a cohort of 12 cases with CHI associated with HH.Clinical Phenotype: An association between congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) was present in 12 patients (M:F 9:3). Mean age at diagnosis of HH was 0.9 months, whereas mean age at diagnosis of CH was 2.0 y...

ea0030p15 | (1) | BSPED2012

Generalised arterial calcification of infancy

Shah Pratik , Murray Philip , Senniappan Senthil , Brain Caroline , Allgrove Jeremy

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 ...

ea0030p21 | (1) | BSPED2012

Pigmentary hypertrichosis and non-autoimmune insulin dependent diabetes mellitus syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome

Senniappan Senthil , Shah Pratik , Hughes Marina , Brogan Paul , Hussain Khalid

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 ...

ea0027p66 | (1) | BSPED2011

Audit on psychology/psychotherapy support in children with diabetes

Shah Pratik , Hoyle Andrew , Arun Sara , Lipscomb Anthony

Introduction: In the United Kingdom, the prevalence of type 1 diabetes in the under-15s is rising fast, an increase of 80% is expected by 2020 and even higher, 125%, in the under five age group. The National Service Framework Standard recommends that all children/young adults with diabetes should receive consistently high quality care and they, with their families, be supported to optimise the control of their blood glucose and all aspects of their subsequent development.<...

ea0051p035 | Miscellaneous/other | BSPED2017

Post-prandial hyerinsulinaemic hypoglycaemia post-esophageal surgery in children

Malhotra Neha , Dastamani Antonia , Guemes Maria , Gilbert Clare , Ress Clare , Dattani Mehul , Shah Pratik

Introduction: Post-prandial hyerinsulinaemic hypoglycaemia (PPHH) or dumping is a recognized complication of various gastric surgeries. There are very few paediatric case reports to confirm PPHH post esophageal repair. We here report two cases who presented with dumping syndrome after a variable time period post esophageal atresia repair and response to medications.Case 1: A 6 month old female diagnosed with Wolf-Hirschhorn syndrome, born at 38+3 weeks b...

ea0085oc7.2 | Oral Communications 7 | BSPED2022

Self-collection of capillary blood samples at home for HbA1c measurements during the COVID-19 pandemic in children with diabetes mellitus

Qian Hui Lim Rachel , Gireesh Bhat Nikita , Begum Rogina , Shah Pratik , Ayling Ruth , Gevers Evelien

Background: Rapid implementation of tele-clinics was necessary during the COVID-19 pandemic. Patients missed routine point-of-care HbA1c testing, vital for evaluating long-term glycemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with patient engagement.Methods: Bio-Rad Haemoglobin Capillary Collection System (HCCS) was used, with...

ea0033oc3.4 | Oral Communications 3 | BSPED2013

Successful Use of Long Acting Octreotide in Treatment of Congenital Hyperinsulinism

Shah Pratik , Gilbert Clare , Morgan Kate , Hinchey Louise , Senniappan Senthil , Arya Ved , Levy Hannah , Hussain Khalid

Introduction/Aim: Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in infancy. Treatment of diazoxide unresponsive patients includes the use of somatostatin analogues (octreotide given either as four s.c. injections daily or via a pump). We aimed to evaluate the use of a long acting somatostatin analogue (Lanreotide) in children with CHI, switching them from daily oral diazoxide or s.c. Octreotide injections to 4 weekly Lanreotide injections.<p class="ab...

ea0033p23 | (1) | BSPED2013

Can we prevent hypoglycaemic brain injuries in term babies with no risk factors of Hyperinsulinaemic Hypoglycaemia?

Gilbert Clare , Morgan Kate , Hinchey Louise , Shah Pratik , Kumaran Anitha , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycemia (HH) represents the most common cause of hyperinsulinism in neonates, often termed as congenital hyperinsulinism of infancy (CHI). CHI is characterised by inappropriate raised insulin secretion from the pancreatic β-cells in relation to blood glucose concentration. Insulin suppresses NEFA and BOHB production. Neurological damage is a known risk associated with hyperinsulinaemic hypoglycaemia (HH).Aim: To ...