Endocrine Abstracts

Type 1 diabetes mellitus is usually believed to present acutely and it is assumed that metabolic decompensation is sudden.We present 3 cases of asymptomatic type 1 diabetesCase1A 28 year old asymptomatic gentleman moved to a new surgery and glycosuria was noted as part of routine screening , no ketonuria., body mass index 21, no past medical illness or any family history of diabetes. His fasting blood glucose...

A 5-month-old child presented with progressive lethargy and loss of motor skills. His mother had pre-existing type 1 diabetes with good glycaemic control throughout gestation (HBA1c 7.3% at booking, 5.5% at 20 weeks). She was euthyroid during pregnancy but had a high titre of thyroid microsomal antibodies (25600). Full blood count was normal at booking and delivery (haemoglobin 12.3 and 11.8 grams per decilitre, MCV 83 and 84 respectively). She was not vegetarian.The child...

Sporadic Medullary thyroid carcinoma (MTC) is an uncommon thyroid cancer. The prevalence has been studied in two large European studies(1,2). Serum calcitonin provides a highly sensitive and specific tumour marker for this. We shall present a case which typifies the presentation of MTC and discuss its relevance.A 71-year-old gentleman of Italian descent was admitted in 2001 with left lower limb cellulitis. It was documented that he had an incidental goitre, that had been p...

Alternative splicing of the rat THRB gene produces thyroid hormone (T3) receptor (TR) beta isoforms 1-3 and also TRdeltabeta3, which lacks the DNA binding domain but binds T3. TRbeta1 is ubiquitous; TRbeta2 is found predominantly in pituitary and hypothalamus, whilst TRbeta3 and TRdeltabeta3 are expressed widely in a ratio that is tissue-specific and T3-dependent. We investigated the function of the newly identified TRbeta3 and TRdeltabeta3 isoforms by transient transfection a...

The glycoprotein hormone common alpha-subunit (alphaGSU) is an early endocrine marker of pituitary development and is expressed concurrently with the orphan nuclear receptor, steroidogenic factor-1 (SF-1). Our studies have examined the potential role of SF-1 in alphaGSU gene expression using two gonadotroph-derived cell lines as models of the developing pituitary.We investigated the role of SF-1 and its binding site, the gonadotroph-specific element (GSE...

There are a range of screening and diagnostic tests for the investigation of short stature, some of which are unpleasant and even dangerous for the patient. Growth hormone (GH) heterogeneity and wide assay biases cause additional complications for interpretation of results. We have used questionnaires to assess protocols and practice in the investigation of short stature by paediatricians and clinical biochemists in Wales.Responses from laboratory staff ...

Background: Substantial deposition of iron in the thyroid gland is a frequent autopsy finding in patients with genetic haemochromatosis. Despite this there have been relatively few reports, mainly isolated cases, of significant thyroid dysfunction in such patients. In one large study Edwards et al. (1983) observed primary hypothyroidism in 6.1% of cases, all subjects were male and had elevated titres of antithyroid antibodies.Aim: The aim of this prosp...

Corticotropinomas represent only a small fraction of all the cases of pituitary adenomas, yet they have the potential for great morbidity and mortality. Presenting clinically as Cushing’s disease (CD), corticotropinomas are characterized at the molecular level by resistance to glucocorticoid negative feedback, dysregulation of proteins controlling cell cycle progression, and overexpression of pathways that sustain overactive ACTH production and secretion. Until recently, ...

A 75 year old woman was treated for over three years with the somatostatin analogue, octreotide for insulinoma. She had presented in a hypoglycaemic coma. C-peptide and insulin levels were both raised. Cortisol, TSH, a gut hormone screen and urinary sulphonylurea levels were all normal. No adenoma was identified on CT or MRI scanning but angiography showed an area of increased vascularity within the pancreas. At laparotomy no lesion was found and no resection was undertaken. B...

Reproductive activity of male Rhabdomys pumilio is inhibited by exposure to a combination of reduced ambient temperature and food availability. However, the extent of this inhibition is reduced in mice that have maintained a body fat reserve. To determine if body fat stimulates reproduction via leptin, we treated 5 non-scrotal mice with exogenous leptin (40 micrograms subcutaneously twice per day for four days). A further 5 mice served as untreated controls. To determin...