Endocrine Abstracts

Adiposity is a major risk factor for insulin resistance and type 2 diabetes. PPAR gamma, an orphan nuclear receptor, is highly expressed in adipose tissue. Paradoxically, synthetic PPAR gamma ligands including thiazolidinedones (TZDs), which activate PPAR gamma induce adipogenesis yet improve insulin sensitivity. We have shown that TZDs selectively induce human subcutaneous but not omental preadipocyte differentiation in vitro, correlating with the observation that trea...

Ligand-activated peroxisome proliferator-activated receptor gamma (PPARgamma), a nuclear hormone receptor, dimerises with retinoid X receptor(RXR) and acts as a transcription factor translating nutritional, pharmacological and metabolic stimuli into changes in gene expression. PPARgamma is thought to serve several roles in adipocyte differentiation, fatty acid and lipid metabolism, insulin sensitivity and ovarian steroidogenesis. PPARgamma has also been shown to increase gluco...

Heterophilic antibody interference in serum TSH immunoassays can result in misdiagnosis of patients with suspected thyroid disease. Rheumatoid factor (RhF) is an immunoglobulin with reactivity to the Fc portion of human IgG. Some RhF species also cross-react with animal immunoglobulins so have the potential to act as heterophile antibodies. As part of the Cambridge Supra-Regional Assay service for thyroid function testing five serum samples with strongly positive RhF and posit...

The PPARgamma is a ligand activated transcription factor that plays an important role in various biological processes including adipocyte differentiation and glucose homeostasis. Alternate promoter usage generates two receptor isoforms: PPARgamma2, containing 28 additional aminoterminal residues, is selectively expressed in adipose tissue whereas PPARgamma1 is more ubiquitously distributed. PPARgamma2 is strongly up regulated during adipogenesis, suggesting a specific role for...

Peroxisome proliferator-activated receptor-gamma (PPARgamma) is one of the isoforms of the PPAR-family of nuclear hormone receptors. Ligand activated PPARs dimerise with retinoid X receptor and act as transcription factors translating nutritional, pharmacological and metabolic stimuli into changes in the expression of genes. PPARgamma is thought to serve several roles in adipocyte differentiation, fatty acid and lipid metabolism and insulin sensitivity. PPARgamma has also been...

Introduction: Biallelic mutations in the TSHB gene are a recognized cause of isolated congenital central hypothyroidism (CH), with autosomal recessive inheritance. In countries where neonatal CH screening relies on detection of an elevated TSH, such cases are missed, with the potential for delayed diagnosis and subsequent developmental impairment.Case: A female infant presented aged 8 weeks with prolonged jaundice, poor weight gain, constipation...

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRβ mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...

A 42-year-old man with resistance to thyroid hormone (RTH) and a recognised thyroid hormone receptorβ mutation (R383C) mutation, presented with atrial fibrillation (AF) which was resistant to DC cardioversion until initiation of amiodarone therapy.As expected in RTH, his baseline TFTs were abnormal (FT4 34.6 pmol/l, TSH 2.27 mU/l), but rose further (FT4 45 pmol/l, TSH 0.93 mU/l) following commencement of amiodarone. However, sh...

A 67-year-old lady presented with hypoglycaemic coma, treated with dextrose infusion. Previously she had a 3-month history of weight gain with increasingly frequent episodes of shaking and blurred vision, particularly at night, relieved by food.A 72-hour fast was undertaken. Within 2 h, she became confused. Serum glucose was 1.1 mmol/l with serum insulin 527 pmol/l (0–60 pmol/l), proinsulin 320 pmol/l (0–7 pmol/l) and C-peptide 2991 pmol/l (174...

Multiple Endocrine Neoplasia Type 2B is a dominantly inherited disorder characterised by mucosal neuromas, medullary thyroid carcinoma (MTC), phaeochromocytoma, and intestinal ganglioneuromatosis. We report the case of a 34-year-old woman who presented with chronic diarrhoea. She had a longstanding history of gastrointestinal symptoms including diarrhoea since the age of 7 and had been investigated extensively for over 20 years at three different centres, but no definitive dia...