Endocrine Abstracts

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...

An estimated 5% of all newborns are born SGA (weight less than −2SD at birth), with 10% failing to catch up and becoming eligible for GH treatment. Not all children respond to GH, but the criteria for determining a non-responder have not been clearly defined. We have therefore evaluated first year growth performance of short SGA children treated with GH in The Growth Clinic, Manchester. Clinical and auxological data were collected retrospectively from the case records of...

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...

3-M syndrome is characterised by post-natal growth restriction. We have identified causative mutations in three genes CUL7, OBSL1 and CCDC8. CUL7, a component of an E3 ubiquitin ligase, has a binding domain for p53 and its reduction or absence has a major impact on growth and cell division. OBSL1 is postulated to have a role as a cytoskeletal adaptor, and was not recognised previously to be a growth regulator. The domain structure of CCDC8 predicts a possi...

Background: 3-M syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth restriction, normal intelligence and dysmorphic facial features. Mutations in the genes encoding Cullin 7 (CUL7) and Obscurin like-1 (OBSL1) have been shown to cause 3-M syndrome.Aims: To characterize CUL7 production and localization in a primary fibroblast cell line from a patient with 3-M syndrome due to a CUL7 mutation and to assess cell prol...