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37th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 1

ea0023oc1.1 | Oral Communications 1 | BSPED2009

Cholesterol and apolipoprotein levels in a cohort of girls with Turner syndrome, and the effect of GH therapy

Gardner Chris , Garden Anne , Didi Mohammed , Newland Paul , Banerjee Indi , Blair Jo

Introduction: Ischaemic heart disease occurs seven times more frequently in women with Turner syndrome (TS) than the normal population. Adult TS subjects have raised serum cholesterol (Ch). In our service we measure Ch, apolipoprotein A1 (APA) and B (APB) annually in TS patients aged >5 years as APB:APA in childhood is a strong predictor of cardiovascular risk in adult life. Little is known about lipid profiles or the effects of GH or oestrogen (E2) in childhood...

ea0023oc1.2 | Oral Communications 1 | BSPED2009

Altered GH/IGF1 signalling in children born small for gestational age without catch up growth

Butcher Imogen , Whatmore Andrew , Murray Philip , Westwood Melissa , Clayton Peter

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. GH and IGF1 receptor mutations only account for a minority of cases. We have now initiated an in vitro assessment of signalling molecules downstream of these receptors and evaluation of cell growth characteristics.<p class="abstext"...

ea0023oc1.3 | Oral Communications 1 | BSPED2009

IGF1R gene expression in patients with idiopathic short stature according to GH and IGF1 status

Milani Soraya Sader , Custodio Rodrigo , Martinelli Carlos Eduardo

The aim of this study was to analyze IGF1R gene expression in patients with idiopathic short stature (ISS) and correlate it with their GH and IGF1 status. In a previous study, we reported lower final height in subjects with ISS and GH peak ≥40 mU/l (Group1, n=16) compared to those with ISS and GH peak between 20 and 40 mU/l (Group2, n=15), after stimulation test (ITT) performed before or during puberty. Patients were 16–24 (Group1) and 15–26 (Grou...

ea0023oc1.4 | Oral Communications 1 | BSPED2009

A multisystem disorder associated with defective selenoprotein synthesis and a thyroid signature

Padidela R , Al-Ali N , Schoenmakers E , Agostini M , Rajanayagam O , Dattani M T , Chatterjee V K K

The superfamily of ~25 human selenoproteins includes antioxidant and oxidoreductase enzymes together with other proteins of unknown function. We describe a child with a multisystem disorder involving deficiencies of several selenoproteins, identified on the basis of abnormal thyroid function.A 3.6-year-old male was referred with elevated free thyroxine (FT4 – 44.4 pmol/l (N 12–22)), low free triiodothyronine (FT3 &#...

ea0023oc1.5 | Oral Communications 1 | BSPED2009

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor obscurin-like 1

Hanson D , Murray P G , Sud A , Temtamy S A , Aglan M , Superti-Furga A , Holder S E , Urquhart J , Hilton E , Manson F D C , Scambler P , Black G C M , Clayton P E

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...

ea0023oc1.6 | Oral Communications 1 | BSPED2009

Influence of JAK2 and PI3 kinase genotypes on growth response to 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. JAK2 and PI3K are involved in signal transduction from the GH (JAK2/PI3K) and IGF1 (PI3K) receptors. We have investigated whether a single nucleotide polymorphism within these genes influences growth response to GH therapy. DNA was taken, with ethical approval, from 104 children treated with GH therapy. Diagnoses were: GHD (n=44), TS (n=23), S...