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

Oral Communications

Oral Communications 1

ea0033oc1.1 | Oral Communications 1 | BSPED2013

GH testing: reducing the need for a second test for the diagnosis of GH deficiency

Juma Zain , Casey Angela , Prior Jullia , Kirk Jeremy , Dias Renuka

Background: The diagnosis of isolated GH deficiency (IGHD) is based on multiple factors: clinical, radiological and biochemical along with suboptimal peak GH levels demonstrated on dynamic testing. Recent guidance from the National Institute of Clinical Excellence (NICE; UK; 2010) advises that two GH stimulation tests must demonstrate a subnormal GH peak <6.7 μg/l (20 mU/l) to confirm the diagnosis of IGHD. In our centre, three different GH provocation tests are used:...

ea0033oc1.2 | Oral Communications 1 | BSPED2013

A single centre audit of the 2012 UK Newborn Screening Programme Guidelines for pre-term infants

Woods Gemma , Langham Shirley , Peters Catherine

Newborn screening of premature infants for congenital hypothyroidism (CH) may initially be normal despite the presence of thyroid pathology and therefore repeat TSH screening is required. The 2012 revised UK Newborn Screening guidelines for premature infants state that infants born <32 weeks gestation require a repeat TSH bloodspot at 28 days postnatal age or discharge home, whichever is earlier. Prior to this, repeat testing was required at 36 weeks corrected gestation fo...

ea0033oc1.3 | Oral Communications 1 | BSPED2013

The utility of AMH for predicting testosterone response to HCG stimulation in children with suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh M Guftar , Giacomozzi Claudio , Shapiro David , Ahmed S Faisal

Introduction: In children undergoing investigation of testicular function the relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Methods: 71 children (three females and 68 males) with a median age of 1.08 years (range: 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an addition...

ea0033oc1.4 | Oral Communications 1 | BSPED2013

Abnormal glucose homeostasis in survivors of childhood acute lymphoblastic leukaemia treated with bone marrow transplantation and total body irradiation is associated with reduced β-cell reserve and pancreatic volume

Wei Christina , Thyagiarajan Manigandan , Hunt Linda , Bradley Karin , Elson Ruth , Cox Rachel , Stevens Michael , Crowne Elizabeth

Background: Adult survivors of childhood acute lymphoblastic leukaemia (ALL) treated with bone marrow transplantation (BMT) and total body irradiation (TBI) have increased risk of impaired glucose tolerance (IGT) and diabetes mellitus (DM). Insulin resistance (IR) has been described, but effects of TBI on pancreatic growth and β-cell function have not been previously reported.Method: Two groups of childhood ALL survivors were studied: Group 1, treat...

ea0033oc1.5 | Oral Communications 1 | BSPED2013

Novel genes affecting the timing of puberty

Howard Sasha , Storr Helen , Metherell Lou , Barnes Michael , Cabrera Claudia , Gausti Leonardo , Wehkalampi Karoliina , Dunkel Leo

Background: Disturbances of pubertal timing affect >4% of the population and are associated with adverse health outcomes. Studies estimate 60–80% of variation in pubertal onset is genetically determined, but few genetic factors are known. We hypothesise that causal variants will be low-frequency, intermediate-impact variants and will be enriched in populations at the extremes of normal pubertal timing. Families with constitutional delay in growth and puberty (CDGP) ha...

ea0033oc1.6 | Oral Communications 1 | BSPED2013

Oral bisphosphonates as prophylaxis of steroid-induced osteoporosis in Duchenne muscular dystrophy

Srinivasan Ramesh , Rawlings David , Cheetham Tim , Sarkozy Anna , Bushby Kate , Owen Catherine

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, resulting in death at a young age. Corticosteroids improve muscle function and slow disease progression. However long-term steroid therapy is a significant risk factor for osteoporosis.Aim: To assess the effect of oral bisphosphonate (risedronate) treatment on bone mineral density in a cohort of steroid-treated children with DMD.Method: Annual bone...

ea0033oc1.7 | Oral Communications 1 | BSPED2013

A mutation in thioredoxin reductase 2 is associated with familial glucocorticoid deficiency

Prasad Rathi , Chan Li , Hughes Claire , Kaski Juan , Kowalczyk Julia , Savage Martin , Peters Catherine , Nathwani Nisha , Clark Adrian , Storr Helen , Metherell Louise

Background: Novel pathogenic mechanisms involving replicative and oxidative stress have recently been described in familial glucocorticoid deficiency (FGD); including mutations in NNT. NNT supplies high concentrations of NADPH needed by the glutathione and thioredoxin anti-oxidant systems to detoxify mitochondrial H2O2.Six patients, from a consanguineous Kashmiri family, were diagnosed with glucocorticoid deficiency between...

ea0033oc1.8 | Oral Communications 1 | BSPED2013

The repressor activity of the Wnt/β-catenin effector Tcf3/TCF7L1 is required for normal hypothalamic–pituitary development

Gaston-Massuet Carles , McCabe Marc , Dattani Mehul , Martinez-Barbera Juan Pedro

Aberrant development of the pituitary gland can result in the clinical manifestation of hypopituitarism. The Wnt/β-catenin pathway has been shown to be involved in normal organogenesis, terminal differentiation and the aetiology of pituitary tumours. However, the specific developmental roles during hypothalamic–pituitary development of some of the Wnt/β-catenin effectors, such as Tcf3, have been hampered due to the early lethality of null embryos for th...

ea0033oc1.9 | Oral Communications 1 | BSPED2013

Genetic characterisation of short children with potential defects of GH action by single gene sequencing

Kowalczyk Julia , Gevers Evelien F , Savage Martin O , Dunkel Leo , Metherell Louise A , Storr Helen L

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...