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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084fc4.1 | Growth | ESPE2015

Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity

Pease-Gevers Evelien , Neumann David , Klammt Jurgen , Andrew Shayne , Kowalczyk Julia , Metherell Lou , Dattani Mehul , Hwa Vivian

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To characterize genomic STAT5B DNA in two families exhibiting short stature.Methods: Sanger sequencing of STAT5B from genomic DNA. Mutant STAT5B constructs were expressed in HEK293 cells.Results: ...

hrp0084fc4.2 | Growth | ESPE2015

A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

Murray Philip G , Alston Charlottle L , He Langping , McFarland Robert , Shield Julian PH , Morris Andrew A M , Crushell Ellen , Hughes Joanne , Taylor Robert W , Clayton Peter E

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

hrp0084fc4.3 | Growth | ESPE2015

An Updated and Final Analysis of a Randomised Placebo-controlled Trial of the Effect of Oxandrolone and Timing of Pubertal Induction on Final Height in Turner Syndrome

Gault Emma-Jane , Cole Tim J , Perry Rebecca J , Casey Sarah , Paterson Wendy F , Hindmarsh Peter C , Betts Peter , Dunger David B , Donaldson Malcolm D C

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

hrp0084fc4.4 | Growth | ESPE2015

Modulation of GH-1 Splicing as Potential Strategy to Rescue GH Deficiency Type II

Miletta Maria Consolata , Fluck Christa E , Mullis Primus-E

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

hrp0084fc4.5 | Growth | ESPE2015

Stunted Growth after Inhaled Corticosteroid Use during the First 24 Months of Life

Saari Antti , Virta Lauri , Dunkel Leo , Sankilampi Ulla

Background: Inhaled corticosteroids (ICS) are used frequently in infants with recurrent wheezing. They may have potential adverse effects as treatment of childhood asthma with ICS decreases growth velocity and adult height. ICS treatment in infancy is thought to alter linear growth only little, but however, studies on ICS use in infancy and linear growth are practically lacking.Objective and hypotheses: To evaluate the impact of ICS on linear growth duri...

hrp0084fc4.6 | Growth | ESPE2015

Positive Association between Height and Cancer in the Swedish Population

Benyi Emelie , Linder Marie , Adami Johanna , Palme Marten , Savendahl Lars

Background: Previous studies have indicated that taller individuals have a higher risk of developing different types of cancer, including breast cancer and melanoma.Objective and hypotheses: Our goal was to study any association between height and the risk of cancer in general-, and breast cancer and melanoma specifically in a very large cohort composed of most Swedish women and men followed over a long period of time.Method: We ha...