Endocrine Abstracts

There is a well-recognised association between Coeliac disease and type 1 diabetes (T1DM). Four of our 68 patients have both conditions (5.9%). We present three other patients with T1DM and GI disease – two inflammatory bowel disease (IBD=2.9%) and one primary sclerosing cholangitis (PSC) and IBD (=1.5%).Case 1: Sixteen years old male, with T1DM from 13-year-old, developed diarrhoea and abdominal pain with no weight loss or blood pr. Investigation s...

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to ...