Endocrine Abstracts

Introduction: Silver–Russell Syndrome (SRS) is a heterogeneous condition characterised by low birth weight, postnatal growth failure and clinical features including relative macrocephaly, limb or facial asymmetry and a triangular facies with broad forehead, pointed chin and downturned mouth. SRS been linked to a number of genetic abnormalities including maternal uniparental disomy (UPD), of chromosome 7 and hypomethylation of the IGF2-H19 imprinted region on chromosome 11...

Von-Hippel Lindau syndrome (VHL) is a familial disorder presenting in children with a range of different neoplasia. A paediatric screening protocol was published in 2000 and has now been applied to patients in our centre. Screening for VHL is multi-disciplinary involving clinical, biochemical, and radiological investigations.Methods: Data was collected between 2000 and 2007 in 14 children on compliance with screening and identification of pathological le...

In the adult animal the Leydig cells are the primary source of androgens in the male and are required to maintain fertility and male behaviour. To help towards understanding the development, control and function of these cells we have analysed the adult Leydig cell transcriptome using the SAGE technique which provides a comprehensive and quantitative gene expression profile of cells or tissues. Leydig cells were isolated from normal adult mouse testes using collagenase and the...