Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2014

Poster Presentations

Growth and development

ea0034p158 | Growth and development | SFEBES2014

A novel gene affecting the timing of puberty

Howard Sasha , Guasti Leo , Storr Helen , Metherell Lou , Cariboni Anna , Barnes Michael , Cabrera Claudia , 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...

ea0034p159 | Growth and development | SFEBES2014

Identification and characterisation of human foetal adrenocortical progenitor cells

Sampson Jessica , Wilson David , O'Kelly Ita

The human foetal adrenal gland (HFA) comprises of two distinct zones; the foetal zone (FZ) and the definitive zone (DZ). The subcapsular DZ has been proposed to contain a population of adrenocortical progenitors that migrate centripetally to populate the FZ. Rodent studies have identified sonic hedgehog (SHH) signalling in a subcapsular non-steroidogenic progenitor population and its disruption during development causes adrenal hypoplasia. The involvement of SHH in the human f...

ea0034p160 | Growth and development | SFEBES2014

Relationships between final height and health outcomes in adults with congenital adrenal hyperplasia: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

Han Thang , Stimson Roland , Rees Aled , Krone Nils , Willis Debbie , Conway Gerard , Arlt Wiebke , Walker Brian , Ross Richard

Background: Treatment of congenital adrenal hyperplasia (CAH) in childhood focuses on growth and development; however the relationship of childhood treatment with adult health outcomes is not established. We explored this by examining relationships between final height (FH) and cardiometabolic risk in CAH adults.Methods: Cross-sectional analysis of 65 men (80% salt wasting (SW) and 20% non-SW) and 134 women (74% SW and 26% non-SW), aged 18–69 years....

ea0034p161 | Growth and development | SFEBES2014

CUL7, OBSL1 and CCDC8 modulate alternative splicing of exon 11 of the insulin receptor gene

Hanson Daniel , Black Graeme , Clayton Peter

Background: The insulin receptor (INSR) is alternatively spliced in a developmental and tissue specific manner into two isoforms, IR-A and IR-B. IR-A excludes exon 11 and is widely expressed whereas IR-B includes exon 11 and is expressed in insulin sensitive tissues. The severe short stature disorder 3-M syndrome is caused by mutations in CUL7, OBSL1 and CCDC8 and we have recently associated these proteins with the major mRNA splicing pathways includ...

ea0034p162 | Growth and development | SFEBES2014

Abstract Withdrawn....

ea0034p163 | Growth and development | SFEBES2014

C-type natriuretic peptide regulates growth and pituitary development in the zebrafish (Danio rerio)

Lessey Andrew , Mirczuk Samantha , McGonnell Imelda , Fowkes Robert

C-type natriuretic peptide (CNP), the predominant natriuretic peptide in the pituitary, is associated with neuroendocrine development and function. Our previous studies show that genes encoding CNP (nppc2, cnp3, nppc4, and nppcl) are expressed during pituitary development in humans and zebrafish (Danio rerio), however a precise role for CNP in the pituitary has yet to be elucidated. Using the versatile zebrafish, we explored in ...

ea0034p164 | Growth and development | SFEBES2014

Distinct gene expression is associated with epigenetic and growth-related network modules in relation to gender differences in the timing of the pubertal growth spurt

De Leonibus Chiara , Chatelain Pierre , Clayton Peter , Stevens Adam

Background: The return to active long bone growth in puberty is a distinctly human event1 and occurs ~2 years earlier in girls compared to boys. Evolutionarily conserved networks of genes are associated with the developmental phases of childhood in multiple tissues2, implying the existence of a genetic program that controls the pubertal return to growth.Objectives: To identify biological functions associated with gender and age-rela...

ea0034p165 | Growth and development | SFEBES2014

Altered frequency of sequence variants in growth-related genes in children with short stature

Murray Philip , Stevens Adam , Hanson Daniel , Whatmore Andrew , Bonnemarie Mireille , Naudin Laurent , Dutailly Pascale , Denefle Patrice , Clayton Peter

Background: Many children with short stature (defined as height SDS <−2 S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age (SGA) or idiopathic short stature (ISS) depending on birth size. Adult height is a polygenic trait and has been associated with >180 single nucleotide polymorphisms (SNPs) to date. We hypothesized that sequence variants (SNPs or insertion/deletions (indels)) in cand...

ea0034p166 | Growth and development | SFEBES2014

Differential effects of grazing and meal feeding on skeletal growth and femoral strength in male rats

Tilston Thomas W , Hopkins Anna L , Brown Richard C , Arms-Williams Bradley , Evans Sam L , Wells Timothy

The pattern of food consumption has a profound influence on metabolic hormone secretion, but until recently only crude manipulations of feeding events have been possible in rodents. Using a CLAMS-based system to overcome this problem, we have investigated the effect of 3 weeks of grazing (consumption of 1/24th of the total daily food intake of ad libitum-fed controls every 30 min during the dark phase (18.00–06.00 h)) and meal feeding (three 1-h periods of ad...