Endocrine Abstracts

Introduction: Diseases of the hypothalamus/pituitary are complex and can be difficult to diagnose. Diagnostic possibilities are many and include sphenoid ridge meningiomas and aneurysms of the internal carotid artery as well as craniopharyngiomas, gliomas of the optic nerve, inflammatory and granulomatous disease.Case report: We present two cases to illustrate the complex differential diagnosis.The first patient presented with head...

Genome wide screens in Graves’ disease (GD) have identified several regions of linkage which may harbour genes which contribute to disease susceptibility. One such region, on chromosome 5q31-33, contains a cytokine cluster which includes interleukin-13 (IL-13). This molecule plays a key role in IgE production, which has been reported to be elevated in patients with GD. Two functional single nucleotide polymorphisms (SNPs), -1112 and +2044, within the IL-13 gene were recen...

The HLA and CTLA-4 gene regions, on chromosomes 6p21 and 2q33 respectively, have been consistently associated with Graves' disease (GD). Recent data indicate that both DRB1 (in the HLA class II region) and the 3' untranslated region of the CTLA-4 gene are the most likely regions harbouring the aetiological variants for susceptibility to GD. It is not known, however, whether these variants lead to expression of specific sub-phenotypes in subjects with GD, or contribute to disea...

Graves' disease (GD) is an autoimmune disease of the thyroid gland with unknown aetiology thought to be caused by a complex interaction between genetic and environmental factors. To date, the HLA region on chromosome 6p21 and the CTLA-4 gene on chromosome 2q33 are thought to account for about 50% of the genetic component of GD with the remaining genetic contribution likely to be made up of many genes each exerting a small effect on predisposition to disease. A recent study (To...

The autoimmune thyroid diseases (AITDs), Graves' disease (GD) and Hashimoto's thyroiditis (HT), are thought to be caused by complex interactions between genetic and environmental factors, which result in an organ-specific autoimmune response being directed against the thyroid gland. GD and HT, although clinically distinct, share many immunological and histological features. Several potential susceptibility genes for AITD have been investigated, although to date only the HLA an...

Tumour necrosis factor-alpha (TNF-alpha) plays an important role in the initiation and regulation of the cytokine cascade during an inflammatory response and is, therefore, a good candidate for involvement in the development of autoimmune disease. The TNF-alpha gene has been mapped to chromosome 6p21.3 and many single nucleotide polymorphisms (SNPs) have been detected within the gene that could affect its function. The allele frequencies of these SNPs and their relationship to...

A 51-year-old female presented with a 9 month history of symptoms suggestive of hypoglycaemia and associated episodes of unconsciousness, which were prevented by frequent food intake but with subsequent weight gain. She reported a history of lactose-induced anaphylaxis and the use of lactose-free subcutaneous prednisolone since sustaining a traumatic cardiac injury in 1987.Two supervised prolonged fasts demonstrated hypoglycaemia with elevated insulin le...

Genome wide association screening (GWAS) has proved invaluable in determining otherwise undetected genetic effects for several common endocrine diseases. The largest GWAS performed in Graves’ disease (GD), to date, has not only confirmed association of several known gene regions, including the HLA region, TSHR and FCRL3, but has also identified several other possible regions of association with GD. As GD shares several susceptibility loci with other endocrin...

Autoimmune diseases (AIDs) have been shown to share a series of genetic susceptibility loci, including the HLA class II region, CTLA-4 and PTPN22, indicating the sharing of key pathways between diseases. Recently, the rs1801274 single nucleotide polymorphism (SNP) within the Fc gamma receptor 2a gene (FcGR2a) has been shown to be associated with several common AIDs including type 1 diabetes, rheumatoid arthritis and coeliac disease. FcGR2a is an immune mod...

Identifying the pathogenic pathways involved in complex diseases such as Graves’ disease (GD) has proved challenging. Although several genetic risk factors, including the HLA class II region, CTLA4, PTPN22 and CD25, encode molecules playing key roles in antigen presentation and controlling T cell recognition/signalling, the identification of novel susceptibility loci has the potential to provide further insights into disease pathogenesis. Recently gen...