Endocrine Abstracts

A 39 yr-old female with a past medical history of a non-metastatic ductal breast carcinoma, presented to hospital with a two-week history of vomiting and dizziness. Clinical examination was essentially normal apart from pigmentation of her mastectomy scar, palmar creases and buccal mucosa. Investigations revealed a plasma sodium (Na) 102 mmol/l, potassium 4.9 mmol/l, plasma osmolality 219 mOsm/kg, urine osmolality 173 mOsm/kg and urine Na 36 mmol/kg. She was treated with fluid...

In numerous tumour types, including those of pituitary origin, gene silencing is frequently mediated through inappropriate methylation of CpG islands. In studies designed to identify novel methylated sequences we used a technique termed arbitrarily primed methylation sensitive PCR (MsAP-PCR) to identify DNA in its hypermethylated forms. The technique relies on cutting the DNA, with methylation sensitive restriction enzymes, prior to PCR amplification. In a similar way in which...

Background: GH replacement during the childhood-adult transition period is important for somatic maturation. The aim of the study was to explore the factors influencing IGF1 response to GH during transition.Methods: KIMS (Pfizer International Metabolic Study) database in UK was interrogated, and 98 patients (55 male, median age 20.7 years (15.7–25.8)) with childhood-onset GH deficiency (Co-GHD), who were started on adult dose of GH during transition...

We report a rare case of acute myeloid leukaemia (AML) with high risk cytogenetics and associated hypothalamic diabetes insipidus (HDI).A 48-year-old female presented to her GP with a 3-month history of tiredness and lethargy. Full blood count revealed haemoglobin 7.0 g/dl (MCV 103fl), white cell count 12.1×109/l (neutrophils 1.33×109/l), platelets 91×109/l; circulating blast cells were evident on the perip...

Candidate gene approaches have identified loss of heterozygosity (LOH) at putative tumour suppressor gene (TSG) loci in sporadic pituitary tumours. This study reports a high-resolution genome wide allelotyping in a large cohort of somatotrophinomas and non-functioning pituitary adenomas (NFA). Samples were first subjected to whole genome amplification by primer extension amplification (PEP) to circumvent limitation imposed by insufficient DNA for the whole genome analysis with...

Introduction: Thyrotropinomas comprise <1% of all pituitary tumours, but detection is increasing with more widespread use of ultrasensitive TSH assays. Although distinct, the classical biochemical signature – hyperthyroxinaemia with non-suppressed TSH – is not specific to thyrotropinoma, as drug effects, non-thyroidal illness, and assay interference can all yield similar patterns of thyroid function tests. Even when these more common confounders have been exclude...

RP (a 60 yr-old male) was found to have multiple atrial myxomata, whilst being investigated for recurrent attacks of amaurosis fugax affecting his left eye. During the preceding twenty years he had undergone repeated resections of cutaneous tumours, which were reported as neurofibromata. A clinical diagnosis of Carney Complex (CNC) was made based on the presence of multiple cutaneous nodules and atrial myxomata. RP displayed mild acromegalic features, but no pigmentation abnor...