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41st Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 2

ea0033oc2.1 | Oral Communications 2 | BSPED2013

Whole Exome Sequencing as a diagnostic tool in adrenal insufficiency

Chan Li , Novoselova Tatiana , Campbell Dan , Hughes Claire , Clark Adrian , Metherell Lou

Introduction: In recent years a growing number of gene mutations have been identified which cause a myriad of syndromes having adrenal insufficiency as a core characteristic. The evolution of each syndrome is dependent on the variant and the particular gene affected. Common practice is for candidate genes to be sequenced individually, which can be time consuming and is complicated by overlapping clinical phenotypes. The increasing availability and cost effectiveness of whole e...

ea0033oc2.2 | Oral Communications 2 | BSPED2013

Increased bone area without reduction in volumetric bone mineral density in children treated with glucocorticoids for nephrotic syndrome

Moon Rebecca , Gilbert Rodney , Murphy Liam , Page Anna , Taylor Pat , Cooper Cyrus , Dennison Elaine , Davies Justin

Background: Glucocorticoids are frequently used to treat childhood inflammatory disorders, and may cause increased fracture predisposition with reduced bone mineral density (BMD), particularly from trabecular bone loss. The contribution of the underlying inflammatory disease processes to these outcomes is poorly understood. Childhood nephrotic syndrome (NS) is a useful model to investigate the effects of steroids on bone, as recurrent courses are often required, but systemic i...

ea0033oc2.3 | Oral Communications 2 | BSPED2013

Clinical phenotype of patients with MCM4 mutation suggests pubertal delay in males

Hughes Claire , Metherell Louise , Clark Adrian , Costigan Colm

Background: We recently reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure. We now report the endocrine phenotype of 14 patients with MCM4 mutations.Methods: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal function and growth.Results: 13 of 14 patients have developed isolated g...

ea0033oc2.4 | Oral Communications 2 | BSPED2013

FGF21 causes GH resistance in human chondrocytes through activation of SOCS2 and inhibition of IGF1 expression

Guasti Leonardo , Ferretti Patrizia , Bulstrode Neil , Dunkel Leo

Background: Fibroblast growth factor 21 (FGF21) is a key metabolic regulator in the adaptation to fasting. In food-restricted mice, inhibition of skeletal growth appears to be mediated by the antagonistic effect of FGF21 on GH action in the liver and in the growth plate (Kubicky et al. 2012, Yu et al. 2012). The role of FGF21 in growth regulation in humans is currently unknown.Objective and hypothesis: To provide mechanistic insights in...

ea0033oc2.5 | Oral Communications 2 | BSPED2013

Continuous s.c. infusion of parathyroid hormone reduces PTH requirement in patient with activating mutation of the calcium sensing receptor

Cheung Moira , Buck Jackie , Brain Caroline , Allgrove Jeremy

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria. Intermittent injections of PTH have been used with some success but ...

ea0033oc2.6 | Oral Communications 2 | BSPED2013

Review of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Dias Renuka , Nightingale Peter , Hardy Carol , Kirby Gail , Tee Louise , Price Sue , MacDonald Fiona , Barrett Timothy , Maher Eamonn

Background: About a half of all children with a clinical diagnosis of Silver-Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome 7 or hypomethylation of H19). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the tendency of the facial features to mitigate during late childhood. Several clinical scoring systems for SRS hav...

ea0033oc2.7 | Oral Communications 2 | BSPED2013

Novel lethal form of hypopituitarism associated with the first recessive LHX4 mutation

Gregory Louise C , Rhodes Simon J , Levy Miles J , Greening James , Humayun Khadija , Dattani Mehul T

Background: LHX4 encodes a member of the LIM-homeodomain transcription factor protein family that is required for development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies (CPHD).Objective/hypothesis: To investigate a cohort of patients with congenital hypopituitarism for mutations in LHX4.<p c...

ea0033oc2.8 | Oral Communications 2 | BSPED2013

Establishing a national audit of paediatric GH prescribing

Gault Emma-Jane , Shepherd Sheila , Shaw Nick

Introduction: GH therapy is prescribed to UK children for a variety of indications. However, no central record exists, making follow-up studies difficult.Aim: To establish an ongoing audit of UK children and adolescents newly-prescribed GH in order to i) monitor trends in prescribing practice and ii) facilitate future long-term follow-up.Patient population: UK children aged ≤16.0 years newly starting GH therapy.<p class="...

ea0033oc2.9 | Oral Communications 2 | BSPED2013

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism

Schoenmakers Nadia , Cangul Hakan , Nicholas Adeline K , Schoenmakers Erik , Lyons Greta , Dattani Mehul , Peters Catherine , Langham Shirley , Habeb Abdelhadi M , Deeb Asma , Puthi Vijith , Park Soo-Mi , Muzza Marina , Persani Luca , Fugazzola Laura , Maher Eamonn , Chatterjee V Krishna

Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...

ea0033oc2.10 | Oral Communications 2 | BSPED2013

A new approach to the definition and diagnosis of adrenal insufficiency during inhaled corticosteroid therapy for asthma

Blair Jo , Didi Mohammed , Lancaster Gillian , Titman Andrew , Newland Paul , Collingwood Catherine , Peak Matthew , Couriel Jonathon

Background: Up to 50% of children treated with inhaled corticosteroids (ICS) have biochemical evidence of adrenal insufficiency (AI). Episodes of adrenal crisis (AC) are extremely rare.To address the discordance between the prevalence of biochemical AI and AC, we re-examined the biochemical definition of AI during ICS therapy. We then investigated the utility of early morning salivary cortisol (EMSC) and cortisone (EMSCn) for the identification of patien...