Endocrine Abstracts

Described here is a series of 3 patients with psychiatric disorders and 4 patients with movement disorders associated with primary hypoparathyroidism. Patients of ages 18 through 55 years and were seen 1998–2004 in a general hospital. Institutional Ethical Committee approval was obtained for the study.On presentation, all patients had fasting plasma tested for calcium, magnesium, phosphorus, albumin and intact PTH. All had CT scans of the head. All ...

Obese boys tend to begin puberty later than their peers who are not overweight. This was a clinical observation made in the Clinic's population of overweight boys. The study described here follows from this observation. The study group consisted of 45 boys in the age 12-15 years with a BMI of 25 or over and were in SMR1. The control group consisted of age matched 15 boys with a BMI ranging from 12-15 and their maturity varied from SMR 2-4. These boys were attending the Clinic ...

We analysed thyroid function tests (TFT; tT4 +TSH ±fT4) and clinical outcomes in patients with thyrotoxicosis managed with the aid of a computerised Thyrotoxicosis Shared-Care Scheme (TSC) between 1994 and 2001. During this 7-year period, 900 patients had been managed via TSC. 319 were in TSC since receipt of the initial referral letter, of whom 268 commenced TSC by mid-2000 with at least 6 months subsequent follow up (FU) data in the same tT4 assay and were analysed i...

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...

In laboratories employing 'front-line' sensitive TSH measurement, it is generally accepted that fully suppressed TSH levels (3rd generation assays) alongside normal free thyroid hormone levels indicate subclinical hyperthyroidism. However, low but not suppressed levels are often labelled as non-thyroidal illness.We investigated 25 successive ambulant individuals, identified over an 18 month period as having low but not fully suppressed TSH levels (3rd ge...

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...

We have previously reported dominant negative missense mutations (P467L, V290M) in human PPAR gamma (peroxisome proliferator-activated receptor gamma) in association with severe insulin resistance, early onset type 2 diabetes and hypertension. In a large UK kindred, where the proband presented at age 15 years with severe insulin resistance (acanthosis nigricans, hyperinsulinaemia, PCOS), we have identified a novel heterozygous frameshift premature stop mutation in the PPAR gam...