Endocrine Abstracts

Introduction: Steroid profiling using liquid chromatography with tandem mass spectroscopy (LC:MS) has a low cost per sample and has the potential for high through-put processing. However, although this technology is becoming more widely used, little is known of the normal ranges of many less well studied steroid compounds as well as their response to a variety of physiological stimulants.Methods: Volunteers were recruited to a randomised, double blind cr...

An 18-year-old male, presenting with unexplained weight loss, was found to have asymptomatic hypocalcaemia (adjusted 1.72 mmol/l, range 2.2-2.6 mmol/l) and hyperphosphataemia (2.05 mmol/l, range 0.8-1.5 mmol/l). He had a background of repaired perimembranous VSD, mild learning difficulties and developmental delay. Parathyroid hormone (PTH) was found to be undetectable and 25-OH Vitamin D insufficient (43 nmol/l). Urine calcium/creatinine ratio was elevated (0.81 mmol/mmol). Th...

Introduction: Gas chromatography/mass spectrometry based steroid profiling has been proposed as a tool for differentiating adrenocortical carcinoma (ACC) from benign adrenocortical adenoma (ACA). We retrospectively examined urinary steroid profiles from ten patients with ACC and 14 patients with ACA to determine, if the steroid profiles were predictive in distinguishing benign from malignant disease.Methods: Patients who had undergone adrenalectomy for r...

Introduction: The diagnosis of Cushing’s syndrome (CS) can be challenging and there is no single gold standard diagnostic test. Endocrinologists rely on a combination of plasma cortisol (before and after dexamethasone), midnight salivary cortisol and urinary free cortisol (UFC) to make the diagnosis. Assessment of urinary corticosteroids and their metabolites, measured by gas chromatography–mass spectrometry (GC–MS), provide a comprehensive picture of corticoste...

A 60 year old female from Zimbabwe with an eight year history of HIV infection presented with malaise and facial swelling. She had been established on antiretroviral treatment (Kivexa (lamivudine / abacavir) and Kaletra (lopinivir / ritonavir)) since shortly after her initial diagnosis. One month earlier she had received an injection of intramuscular triamcinolone acetate to treat an inflammatory polyarthropathy. She was also prescribed inhaled salmeterol xinafoate 50 mcg/flut...

Aldosterone synthesis is heritable; a single nucleotide polymorphism (SNP) in the promoter of the aldosterone synthase gene (position −344, rs1799998) has been associated with an increased plasma aldosterone levels and hypertension. However, deletion of this site has no effect on gene transcription in vitro and therefore the mechanism that links genotype with phenotype is unclear.We identified a polymorphism at position −1651 T/C (rs13...

The aldosterone synthase gene encodes the final step in the production of aldosterone. The aldoststerone synthase gene is polymorphic and variants within the gene and the regulatory region have been associated with hypertension and a phenotype of relatively higher level of aldosterone and its metabolites. However to date; none of the polymorphisms in the regulatory region of CYP11B2 have been shown to alter transcription. Seven novel polymorphisms in the promoter region of CYP...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

A 38-year-old lady presented in 2003 with a 2 years history of recurrent pneumonia, with CXR having demonstrated intermittent right lower zone consolidation. CT of chest revealed dense right lower lobe consolidation and a 2.5 cm tumour occluding the right lower lobe orifice was found on bronchoscopy. Strongly positive immunohistochemical staining for chromogranin, NCAM, PGP 9.5 and synaptophysin suggested carcinoid so right lower and middle lobectomy was performed. Histology c...