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43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes


Oral Communications 6

ea0039oc6.1 | Oral Communications 6 | BSPED2015

Somatostatin-expressing cells contribute to the pathobiology of atypical congenital hyperinsulinism in infancy

Han Bing , Newbould Melanie , Batra Gauri , Cheesman Edmund , Craigie Ross , Mohamed Zainab , Rigby Lindsey , Padidela Raja , Skae Mars , Cosgrove Karen , Dunne Mark , Banerjee Indraneel

Background: Atypical congenital hyperinsulinism in infancy (CHI-A) represent patients who generally present symptoms of hypoglycaemia later in the neonatal period, are poorly responsive to medical intervention and have no known genetic cause of disease. Our objective was to compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.Methods and materials: CHI tissues w...

ea0039oc6.2 | Oral Communications 6 | BSPED2015

Mutations in BRAF are associated with septo-optic dysplasia and cardiofaciocutaneous syndrome

Gregory Louise , Besser Rachel , Temple Karen , Davies Justin , Dattani Mehul

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

ea0039oc6.3 | Oral Communications 6 | BSPED2015

Skeletal changes in pre-pubertal children with loss of function mutations in the melanocortin-4 receptor

Dimitri Paul , Collet Tinh-Hai , Keogh Julia , Farooqi Sadaf

Background: Obese children are at greater risk of fracture. However, previous evidence suggests that obese children with a mutation in the melanocortin-4 receptor (MC4R) have a high age-adjusted bone mass. MC4R deficiency is associated with increased linear growth, so bone mass may be over-estimated due to patients being taller. We therefore aimed to compare body size-adjusted bone mass of lean and obese pre-pubertal children with those who have a mutation in MC4R.<p class...

ea0039oc6.4 | Oral Communications 6 | BSPED2015

Associated renal anomalies in children with Turner syndrome: 43-year experience from a single-centre

Lucaccioni Laura , Wong S C , Strano Rosario , Donaldson Malcolm , Cascio Salvatore , Mason Avril

Objective: To assess prevalence, clinical features, and follow-up of renal/urological malformations in patients with Turner syndrome (TS).Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.Results: Twenty-one girls (11.5%) were identified with renal/urological anomalies: 15 (71%) horseshoe kidney (HSK), 1 (4.7%) malrotation, 2 (9.5%) single kidney, and 1 (4.7%) duplex colle...

ea0039oc6.5 | Oral Communications 6 | BSPED2015

The measurement of urinary gonadotrophins for assessment and management of pubertal disorders

Lucaccioni Laura , McNeilly Jane , McMillan Martin , Kyriakou Andreas , Wong S C , Predieri Barbara , Iughetti Lorenzo , Shaikh M Guftar , Mason Avril , Ahmed S Faisal

Objective: Prospective evaluation of the relationship between first morning urinary gonadotrophins (uGn) measured by immunoassay and corrected for creatinine (uLH:uCr and uFSH:uCr), and basal serum gonadotropins (sLH and sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients receiving GnRH analogue (GnRH-a; decapeptyl SR, 11.25 mg, every 10–12 weeks).Methods: Enrolled 15 (12M) patients evaluated for delayed p...

ea0039oc6.6 | Oral Communications 6 | BSPED2015

An assessment of auditory function in infants with congenital hypothyroidism

Blackman-Mack Rachel , Peters Catherine , Langham Shirley , Rajput Kaukab , Sirimanna Tony

Introduction: Thyroxine plays a key role in the development of the structures of the ear, the auditory pathway and in myelination of the central nervous system. The association between congenital hypothyroidism (CH) and neurodevelopmental outcome is clearly established. However, there is a lack of data about the prevalence and severity of hearing loss in the CH population.Methods: Between 1/1/12 and 31/12/13, 187 children were diagnosed with CH and treat...

ea0039oc6.7 | Oral Communications 6 | BSPED2015

Standard and modified release hydrocortisone formulations: cortisol levels and patient preference

Park J , Henderson T , Leyland H , Das U , Didi M , Ramakrishnan R , Peak M , Blair J

Background: Cortisol profiles during treatment with standard hydrocortisone (StdHC) formulations are unphysiological. Some patients, with low cortisol levels between doses, experience symptomatic hypocortisolaemia and may benefit from modified release hydrocortisone (MRHC). Plenadren is a MRHC licensed for once daily dosing in adults.We offered Plenadren to patients with symptomatic hypocortisolaemia, documented to occur at times of low cortisol levels, ...

ea0039oc6.8 | Oral Communications 6 | BSPED2015

An interstitial deletion within GATA3 in association with abnormal pituitary structure and function

Ferguson Elspeth , Johnson Diana , Dimitri Paul

Background: Haploinsufficiency of the GATA3 gene located on chromosome 10p15, is well-recognised as the cause of hypoparathyroidism, sensorineural deafness and renal dysgenesis; the HDR syndrome. A number of abnormalities within the GATA3 gene have been identified, with varying phenotypic characteristics. GATA3 is associated with other abnormalities including, abnormalities of Mullerian structures, hypomagnesia, hemimegalenencephaly and diabetes mell...

ea0039oc6.9 | Oral Communications 6 | BSPED2015

The impact of intragastric balloon placement suppported by a lifestyle intervention programme on cortical and trabecular microstructure and strength in severely obese adolescents

Sachdev Pooja , Reece Lindsey , Thomson Mike , Copeland Rob , Wales Jerry , Dimitri Paul , Wright Neil

Background: The effect of profound weight loss following obesity surgery on skeletal microarchitecture and strength in adolescents has not been studied. Obese children are at an increased risk of fracture and childhood obesity leads to reconfiguration of trabecular bone without augmenting bone strength.Objectives: To examine the impact of weight loss following 6 months treatment with an intragastric balloon supported by a lifestyle intervention programme...

ea0039oc6.10 | Oral Communications 6 | BSPED2015

Neuroradiological features in a cohort of 53 children with Thickened Pituitary Stalk (TPS) and/or idiopathic central diabetes insipidus

Cerbone Manuela , Ederies Ash , Losa Laura , Moreno Carolina , Spoudeas Helen A

Introduction: Children with TPS and/or ICDI represent a diagnostic and management conundrum. Agreed radiological criteria for TPS are lacking.Aims: To longitudinally characterize the neuroradiological features of children presenting with TPS and/or ICDI due to different aetiologies (oncological, inflammatory, idiopathic).Methods: We searched the terms ‘thickened pituitary stalk’ or ‘idiopathic diabetes insipidus&#146...