Endocrine Abstracts

Introduction: Hurler Syndrome, (MPS1H) is an inborn error of metabolism which was previously fatal in childhood. Bone marrow transplantation (BMT) has transformed the prognosis for these children. First BMTs are preconditioned with chemotherapy, and we have therefore put in place surveillance for endocrine sequelae. We present for the first time data on final adult height in children with MPS 1H post BMT, as well as the endocrine complications seen in this cohort.<p class=...

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...

Background: Seeing the doctor alone has been associated with a better outcome following transition to adult services.Methods: A simple questionnaire was designed for young people (YP) to enquire about being seen alone in paediatric endocrine clinics.Results: The questionnaire was administered to 72 YP young people (37 male) with long term endocrine conditions. The mean age was 15.5 (2.5). 10% of YP thought they should be offered th...

Ubiquitination (Ub) is the process that controls the level and activity of cellular proteins. Mono-ubiquitination of a protein alters its function, while poly-ubiquitination targets a protein for degradation (as the ‘kiss of death’). Alterations in the Ub system are associated with a wide range of disease, e.g. cancer, neurological diseases and viral infection.Disorders of growth where the phenotype is primarily short stature are usually caused...

Background: Re-evaluation of the diagnosis of GHD at the completion of linear growth is a key task.Objectives: To audit the impact of consensus recommendations on diagnosis of GHD and initiation of GH therapy in adolescents previously treated for a brain tumour (BT) or haematological malignancy (HM).Population: Sixty one patients who had received GH therapy until final height following treatment for a BT (n=40) or a HM (n...

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...

Background: A polymorphism of the GHR gene, deletion of exon 3 (d3 GHR), has been associated with improved growth response to GH in some studies. We investigated the effect of this polymorphism across several diagnoses, evaluating parameters of growth outcome from a single institution (Manchester) and combined these with those derived from the literature using meta-analytical approaches.Methods: GHR genotype was assessed by PCR and related to clinical an...

3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...

We report a 47-year old lady who was initially diagnosed to have primary hypothyroidism nearly four years ago; on treatment with levothyroxine sodium (LT4) 150 μcg daily. Despite reasonable doses of LT4, and being fully compliant with her therapy, at no stage her TSH was less than 20 mU/L (Table-1). Malabsorption was ruled out and there were no clinical features to suggest this. When she was reviewed...

Background: IRS consists of ≥3 of the following components: obesity (BMI >98th centile), abnormal insulin glucose homeostasis, hypertension, dyslipidaemia. Elevated serum alanine aminotransferase (ALT) is a marker of NAFLD.Objective: To define the prevalence of IRS and NAFLD in obese children referred to our centre.Methods: subjects: mean BMI-SDS +6 (+0.6 to +14), median age 13.4 years (3–19), female 66%, British Asi...