Endocrine Abstracts

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 ...

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...

Although overt thyroid disease is easily recognised, lesser disturbances of thyroid function can prove difficult to diagnose and be mimicked by other endocrine and non-endocrine disorders. Establishing the correct diagnosis depends on accurate interpretation of thyroid function tests (TFTs), which is usually straightforward; however, in a minority of situations, the results of FT4, FT3 and TSH measurement either do not ‘fit’ with the clinical picture and/or appear di...

Introduction: Anti-thyroid drugs like Carbimazole and Propylthiouracil are widely used in the management of hyperthyroidism. These medications are associated with a spectrum of cutaneous, hematologic, teratogenic and hepatobiliary adverse effects.Case Report: A 65-year-old lady, known to have asthma on inhalers as needed and no history of allergies. She was diagnosed with Graves’ thyrotoxicosis after she presented to her General Practitioner with mo...

Background: Type 2 diabetes mellitus (DM) is probably one of the non-communicable diseases with raised levels of glucose in the blood due to insulin efficacy. The aetiology of disease combines both genetic and lifestyle or environmental factors. (GWAS) studies have been identified CAPN10 (SNP-19), FTO (rs-9939609), MTHFR (rs1801133) and PPARG (rs1801282) genetic polymorphism with susceptibility to T2DM. The susceptibility will increase by independent risk of genetic polymorphi...

A 71-year-old male ex-publican presented to the Medical Emergency Unit suffering from lethargy, weight loss, dizziness on standing and dyspnoea on exertion. He had a past medical history of hypertension, ischaemic heart disease and alcoholic liver disease and he admitted to drinking 100 units of beer per week. His anthihypertensive medications included lisinopril and hydrochlorthiazide. On examination BMI was 35 kg/m2, blood pressure 85/65 mmHg and there was no bucc...

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...

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...

Background: Standard glucocorticoid therapy in CAH often fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes, particularly in adolescents. Efmody, a MRHC, has recently been licensed for CAH patients aged >12 years following a phase 3 study by Merke et al., 2021 demonstrating improved biochemical control in adults, steroid dose reduction over time, and patient-reported benefit.<stron...

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis associated pathways account for mild-moderate to severe GHI. We report non-consanguineous twin brothers who present with short stature and bi-allelic mutations in QSOX2 encoding a nuclear membrane protein. Genome-wide associat...