Searchable abstracts of presentations at key conferences in endocrinology

ea0033oc5.2 | Oral Communications 5 | BSPED2013

Clinical, biochemical and neuroradiological characterization of a cohort of patients with septo-optic dysplasia and multiple pituitary hormone deficiencies

Cerbone Manuela , Guemes Maria , Dattani Mehul

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate the clinical, neuroradiological and endocrine features of patients with SOD and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 76 patients with SOD and 26 with MPHD, followed at a single centre. SOD patients were divided into two groups: i) with pituitary hor...

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...

ea0039ep83 | Miscellaneous/other | BSPED2015

Determination of pancreatic hormones in children with different forms of hyperinsulinaemic hypoglycaemia

Guemes Maria , Morgan Kate , Gilbert Clare , Rahman Sofia , Hussain Khalid

Introduction: In congenital hyperinsulinism (CHI) hypoglycaemia results from a dysregulation of insulin secretion. We hypothesised that other pancreatic hormones may also be dysregulated in this condition.Objectives: To proof the applicability of Luminex Multiplex method to measure pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) in the paediatric age. To elucidate the fasting response of these hormones in children with different forms o...

ea0039ep89 | Miscellaneous/other | BSPED2015

Isolated postprandial hyperinsulinaemic hypoglycaemia in children

Guemes Maria , Melikyan Maria , Senniappan Senthil , Hussain Khalid

Introduction: Isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in the paediatric age has been exceptionally reported in the literature.Objective: To describe the clinical and biochemical characteristics as well as the management of a cohort of children with isolated PPHH followed at a single tertiary paediatric centre.Subjects and methods: Six children (three males) were collected. The clinical characteristics, diagnosi...

ea0036P76 | (1) | BSPED2014

Septo-optic dysplasia, multiple pituitary hormone deficiency and optic nerve hypoplasia: clinical and neuroradiological characteristics

Guemes Maria , Cerbone Manuela , Kasia Tessa , Gregory Louise , Dattani Mehul

Introduction: Multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD) are well known causes of hypopituitarism, but children with optic nerve hypoplasia (ONH) may also be at risk of hormone and neurocognitive disturbances. Clinical and neuroradiological findings of these three related conditions are characterised in this study, aiming to understand their pathophysiology.Design: Data from 140 patients with hypopituitarism (MPHD, SOD) ...

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...

ea0033p8 | (1) | BSPED2013

Reliability of diagnostic tests for paediatric Cushing's syndrome

Guemes Maria , Murray Phil , Brain Caroline , Peters Catherine , Spoudeas Helen , Hindmarsh Peter , Dattani Mehul

Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.Design: We conducted a retrospective study analyzing cases of Cushing...

ea0045oc6.2 | Oral Communications 6- Endocrine | BSPED2016

Systematic trial of Nifedipine in children with Hyperinsulinaemic Hypoglycaemia due to mutations in the ABCC8 gene

Guemes Maria , Shah Pratik , Silvera Shavel , Hinchley Louise , Morgan Kate , Gilbert Clare , Hussain Khalid

Introduction: Several previous case reports have described the use of the calcium-blocker Nifedipine for the treatment of hyperinsulinaemic hypoglycaemia (HH). These cases are a collection of transient/permanent forms of HH, with known/unknown genetics, where Nifedipine has been used either as monotherapy or in combination with other medications. There have been no previous reports of any systematic trial of Nifedipine use in patients with HH due to mutations in the ABCC8<...

ea0039p4 | (1) | BSPED2015

Use of long acting somatostatin analogue (Lanreotide) in CHI – its pharmacokinetics and long-term follow-up study

Shah Pratik , Rahman Sofia , McElroy Sharon , Gilbert Clare , Morgan Kate , Hinchey Louise , Button Roberta , Margetts Rebecca , Senniappan Senthil , Guemes Maria , Levy Hannah , Morte Marti Carles , Celma Lezcano Carles , Amin Rakesh , Hussain Khalid

Background: CHI is a cause of severe hypoglycaemia in children. Diazoxide (KATP channel agonist) is used as first-line treatment but is known to cause severe hypertrichosis and reduced appetite in children. Diazoxide unresponsive CHI us treated with daily octreotide subcutaneous injections (3–4 times/day).Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of long acting Somatostatin analogue (Lanreotide) thera...