Searchable abstracts of presentations at key conferences in endocrinology
Previous issue | Volume 19 | SFEBES2009 | Next issue

Society for Endocrinology BES 2009

Poster Presentations

Growth and development

ea0019p195 | Growth and development | SFEBES2009

Delayed puberty: an occult systemic cause

Manjunatha RS , Varughese G , Varadhan L , Clayton RN

We report a 17-year-old male who presented with symptoms of absent secondary sexual characteristics, decreased appetite and infrequent non-specific abdominal pain. He had no complaints of headache, altered sense of smell or colour blindness. His other siblings had normal growth.On examination, he had normal male body habitus, height (157 cm), no gynaecomastia, axillary and beard hair (tanner stage 1) pubic hair (tanner stage 2), testes (12 ml bilaterally...

ea0019p196 | Growth and development | SFEBES2009

Abstract withdrawn....

ea0019p197 | Growth and development | SFEBES2009

Altered IGF-I signalling in children born small for gestational age without catch up growth

Butcher I , Whatmore A , Murray P , Westwood M , Clayton P

Background: Infants born small for gestational age (SGA) usually show catch-up growth during the first few years of post-natal life. However, some infants remain small and little is known about the factors governing their growth failure. IGF-I receptor mutations account for a minority of cases therefore we have initiated an assessment of signalling molecules downstream of the receptor.Method: Skin biopsies were obtained with local ethics approval from he...

ea0019p198 | Growth and development | SFEBES2009

Maternal protein or energy restriction and offspring HPA axis response to an ITT

Bastone C , Rhodes P , Rhind S , Gardner D

Maternal nutrient restriction has been suggested to influence adult offspring HPA axis function. Here, we have studied maternal global nutrient or specific protein restriction and characterised offspring HPA axis response (of plasma cortisol and metabolite excursions) to an insulin tolerance test at 1 year of age. Thirty-nine pregnant sheep were either fed a control diet (replete in energy and protein; n=12) meeting maintenance energy requirements 1.0 M or were fed a di...

ea0019p199 | Growth and development | SFEBES2009

Characterisation of the nuclear localisation signal (NLS) site of GATA3

Grigorieva I , Nesbit M , Thakker R

GATA3 mutations cause the congenital autosomal dominant hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger nuclear transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. To date, the mechanisms by which GATA3 mutations lead to haploinsufficiency of the GATA3 protein, which comprises 444 amino acids, have been shown to include loss of ...

ea0019p200 | Growth and development | SFEBES2009

The influence of birth weight on glucocorticoid receptor (GR) and peroxisome proliferator activated receptor (PPAR)α gene expression and lipid content in liver from neonatal pigs

Kwok T , Almond K , Litten-Brown J , Corson A , Clarke L , Symonds M , Mostyn A

Background: Birth weight has important consequences for later health, including the development of the metabolic syndrome. Tissue sensitivity to cortisol is regulated, in part, by the GR and alterations in its expression occur in obesity and type 2 diabetes. Low birth weight is associated with increased fat mass and down-regulation of PPARα, in skeletal muscle of neonatal pigs.Objectives: To examine whether birth weight influences GR or PPARα m...

ea0019p201 | Growth and development | SFEBES2009

Monocarboxylate transporter 8 (MCT8) in human fetal central nervous system (CNS) development

Chan S-Y , Martin-Santos A , Loubiere LS , Gonzalez AM , Cox P , Logan A , McCabe CJ , Franklyn JA , Kilby MD

Mutations in the plasma membrane thyroid hormone (TH) transporter, MCT8, are associated with severe global neurological deficits accompanied by abnormal circulating TH levels. We have previously shown that MCT8 over-expression in human neuronal precursor cells (NT2) increases cellular T3 uptake and reduces proliferation.Objectives: To quantify and localise the expression of MCT8 in human fetal CNS and to investigate the role of MCT8 in NT2 neurodifferent...

ea0019p202 | Growth and development | SFEBES2009

Characterisation of a novel GATA3 mutation in hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome

Gaynor K , Grigorieva I , Nesbit M , Cranston T , Gomes T , Gortner L , Thakker R

GATA3 mutations cause the congenital autosomal dominant Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extract...

ea0019p203 | Growth and development | SFEBES2009

Human fetal mesenchymal stem cells can differentiate into white and brown adipocytes, and reveal a role for ERRα in human UCP1 expression

Morganstein D , Wu P , Fisk N , White R , Parker M

Adipocytes have a key role in obesity and precursor cells can differentiate into white or brown adipocytes, with different metabolic functions. However the process by which stem cells commit to these lineages, and the factors that distinguish white adipogenesis from brown, are poorly understood.Fetal mesenchymal stem cells (fMSCs) can differentiate into adipocytes, but neither the regulation of this process, nor the phenotype differentiated cells has bee...

ea0019p204 | Growth and development | SFEBES2009

Influence of JAK2 and PI3kinase genotypes on growth response to growth hormone (GH) therapy

Omokanye A , Solomon M , Morjaria R , Murray P , Whatmore A , Patel L , Clayton P

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy in a range of conditions. JAK2 and PI3Kinase are involved in signal transduction from the GH (JAK2/PI3Kinase) and IGF-1 (PI3Kinase) receptors. We have investigated whether single nucleotide polymorphisms within these genes influence growth response to GH therapy. DNA was taken, with ethical approval, from 97 children treated with GH therapy in a single growt...

ea0019p205 | Growth and development | SFEBES2009

Exposure to a maternal dietary protein restriction during gestation impedes hepatoblast differentiation

Simpson E , Welham S

Maternal undernutrition has been demonstrated to impact upon the development of a number of organ systems, including the kidney and pancreas. Offspring exposed to a maternal dietary protein restriction during gestation exhibit livers with fewer, larger lobules, suggestive of a similar developmental defect. It has been previously suggested that developmental changes, at least in the kidney, might be mediated by a change in the expression of the transcription factor Prox1. Here,...

ea0019p206 | Growth and development | SFEBES2009

Natural history of CHARGE syndrome in adults clinic

La Rosa Clementina , Suresh Damodharan , Conway Gerard

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semapho...

ea0019p207 | Growth and development | SFEBES2009

Post-natal stress in birds: a novel experimental model to understand glucocorticoid programming of the HPA axis

Spencer K , Monaghan P , Evans N

Exposure to stressful events during development is known to have significant effects on a range of phenotypic traits in later life. Several mammalian studies have linked early post-natal stress to later changes in the hypothalamic pituitary adrenal (HPA) axis, underlying the physiological response to stress. However, the physiological link (lactational hormonal transfer) between mother and offspring during post-natal development limits our ability to determine the direct effec...

ea0019p208 | Growth and development | SFEBES2009

Antisense oligonucleotides to correct the aberrant growth hormone receptor mRNA splicing caused by the pseudoexon 6Ψ defect

David A , Srirangalingam U , Metherell LA , Khoo B , Clark AJL

Background: The growth hormone receptor (GHR) 6Ψ pseudoexon mutation (A to G at ds-1) is one of the most frequent mutations causing GH insensitivity. It causes aberrant mRNA splicing, leading to activation of a pseudoexon and insertion of 36 additional amino acids, resulting in a functionless receptor. Although IGF-I remains the mainstay of treatment for these patients we investigated the ability of RNA antisense oligonucleotides (ASOs) to correct aberrant GHR splicing us...

ea0019p209 | Growth and development | SFEBES2009

The effect of age on insulin-like growth factor-I and pro-collagen type III N-terminal peptide in elite adolescent athletes and its influence on the detection of growth hormone abuse

Guha N , Erotokritou-Mulligan I , Brigg J , Burford C , Drake T , Strobridge G , Bassett E , Cowan D , Bartlett C , Sonksen P , Holt R

Introduction: Using discriminant analysis, a method based on two growth hormone (GH) dependent markers, insulin-like growth factor-I (IGF-I) and pro-collagen type III N-terminal peptide (P-III-P) has been devised to detect exogenously administered GH. It is believed that GH is a popular substance of abuse amongst adolescent athletes. As previous studies on the detection of GH abuse involved predominantly adult athletes, it is necessary to validate the method in adolescent athl...