Searchable abstracts of presentations at key conferences in endocrinology
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39th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 1

ea0027oc1.1 | Oral Communications 1 | BSPED2011

Surgical treatment of children with hyperparathyroidism: single centre experience

Alagaratnam Swethan , Brain Caroline , Spoudeas Helen , Dattani Mehul , Hindmarsh Peter , Allgrove Jeremy , Van't Hoff William , Kurzawinski Tomasz

Introduction: Hyperparathyroidism (HPT) in children is rare with limited outcome measures post surgery.Methods: Retrospective case review of 26 (14M) children (<16 years) who underwent parathyroidectomies (PTx) between 1978 and 2011.Results: Twenty-six children (14M, 12F) included six neonates with neonatal severe HPT (NSHPT) and 20 older children with HPT (13 sporadic, 7 familial).All NSHPT neonates were...

ea0027oc1.2 | Oral Communications 1 | BSPED2011

Isolation and characterisation of tumorigenic progenitors/stem cells with a stabilizing mutation in β-catenin, in a mouse model of human adamantinomatous craniopharyngioma

Andoniadou Cynthia L , Gaston-Masuet Carles , LeTissier Paul , Dattani Mehul T , Martinez-Barbera Juan Pedro

Somatic stem cells of multiple tissues such as brain, blood, gut epithelium and epidermis, have specific roles in tissue homeostasis and plasticity of cell types. There is evidence that when mutated, such cells, termed cancer stem cells (CSCs) also underlie tumorigenesis, but their presence in many tumours is elusive. In the pituitary gland, somatic stem cells (PSCs) have been previously identified and characterised but little is known about their role in tumorigenesis. Adaman...

ea0027oc1.3 | Oral Communications 1 | BSPED2011

High likelihood of malignancy in patients presenting with a thyroid nodule

Jamil Furrukh , Cheetham Tim

Introduction: Thyroid nodules in children are more often malignant than in adult practice (~26 vs 5–10%) and in our locality the incidence of thyroid cancer in young people is increasing. We therefore assessed the presentation, investigation, histology and management of paediatric patients presenting with thyroid nodules.Methods: This was a retrospective audit conducted at a regional unit (catchment population ~3 million) where young people are like...

ea0027oc1.4 | Oral Communications 1 | BSPED2011

Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor α mutation

Schoenmakers Nadia , Bochukova Elena , Agostini Maura , Schoenmakers Erik , Rajanayagam Odelia , Henning Elana , Gevers Evelien , Sarri Margarita , Offiah Amaka , Albanese Assunta , Halsall David , Schwabe John , Bain Murray , Lindley Keith , Muntoni Francesco , Vargha-Khadem Faraneh , Dattani Mehul , Farooqi Sadaf , Gurnell Mark , Chatterjee Krishna

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to thyroid hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.<p cl...

ea0027oc1.5 | Oral Communications 1 | BSPED2011

Deconvolution analysis of 24 h serum cortisol profiles informs the amount and distribution of hydrocortsione replacement therapy

Hindmarsh Peter , Hill Nathan , Dattani Mehul , Peters Catherine , Charmandari Evangelia , Matthews David

Introduction: Glucocorticoid replacement therapy uses twice or thrice daily regimens of hydrocortisone (HC) with variable distribution of the dose over the day. Deconvolution analysis determines the mass of hormone that needs to be secreted to attain a particular serum concentration. We have used this methodology to determine the amount and distribution of cortisol over a 24 h period.Methods: Seventy-nine adults (41M) aged 60–74 years and 30 childre...

ea0027oc1.6 | Oral Communications 1 | BSPED2011

Twenty novel mutations in nicotinamide nucleotide transhydrogenase (NNT) causing FGD

Metherell Lou , Meimaridou Eirini , Kowalczyk Julia , Guasti Leo , Hughes Claire , Mann Nicholas , Banerjee Ritwik , King Peter , Clark Adrian

Familial glucocorticoid deficiency (FGD;OMIM 202200) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation. Half of all cases are caused by mutations in MC2R, MRAP or STAR. SNP array genotyping of FGD patients of unknown aetiology mapped a disease locus to chromosome 5p13-q12. Targeted exome sequencing of 5p13-q12 in one patient identified a homozygous mutation, p.Ala533Val, in nicotinamide nucleotide transhyd...

ea0027oc1.7 | Oral Communications 1 | BSPED2011

Mild GH deficiency due to two novel homozygous mutations in the gene encoding GHRH receptor (GHRHR) in a single family

Gregory Louise C , Alatzoglou Kyriaki S , Dattani Mehul T

Introduction: Release of GH by the somatotroph cells of the anterior pituitary is stimulated by GHRH. GHRH acts via its transmembrane receptor, GHRHR, a G-protein coupled receptor that stimulates protein kinase A. Recessive mutations in GHRHR are associated with severe isolated GH deficiency (IGHD) with a final height in untreated patients between 130±10 cm (−7.2±1.6 SDS) and 114±0.7 cm (−8.3±0.1 SDS) in males and females respectively.</p...

ea0027oc1.8 | Oral Communications 1 | BSPED2011

Mutations in PROKR2 but not PROK2 are associated with congenital hypopituitarism and septo-optic dysplasia

McCabe Mark , Gregory Louise , Gaston-Massuet Carles , Sbai Oualid , Rondard Philippe , Pfeifer Marija , Hulse Tony , Buchanan Charles , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Introduction: Loss-of-function mutations in PROK2 and PROKR2 in humans have been associated with Kallmann syndrome (KS), characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that both are critical for GnRH neuronal development.Objective: KS has overlapping phenotypes and genotypes through FGF8 and FGFR1 with congenital hypopituitarism including septo-optic dysplasia (SOD) and thus we aime...