Endocrine Abstracts

SEMDs are a heterogeneous group of skeletal disorders characterised by defective growth and modelling of the spine and long bones. Genetic defects in two inherited SEMDs have been identified and these involve abnormalities of the collagen type II gene located on chromosome 12q12-q13.2, and an ATP sulfurylase/APS kinase gene located on 10q23-34. These are not the cause of the Missouri variant (SEMDMO), which occurs as an autosomal dominant trait in a unique four-gene...

A 52 year old man presented with a 4 week history of heartburn and epigastric pain. On examination 6 centimetres of irregular heptomegaly were palpable extending across to the epigastrium. Ultrasound of the abdomen demonstrated multiple liver metastases. Percutaneous liver biopsy was consistent with a neuroendocrine tumour (NET) with positive staining for CAM 5.2, chromogranin, PGP 9.5 and S100 but negative for alpha fetoprotein and CEA. Gamma glutamyl transpepitdase was eleva...

Knockout studies have demonstrated that FSHbeta knockout (FSHbKO) and FSH receptor knockout (FSHRKO) female mice are infertile due to block of follicle development at the pre-antral stage. The ovaries are reduced in size and uteri are atrophic. However, a proportion of FSHRKO and FSHbKO mice develop ovarian and uterine hypertrophy in middle age (Abel et al, 2001). In order to investigate further brain-pituitary-gonadal interrelationships the aim of the present study was to com...

Elevated cortisol in Cushing's syndrome or ageing is associated with cognitive dysfunction. 11beta-HSD1 is expressed in rodent hippocampus and frontal cortex, regions important for cognition. In cultured rat hippocampal neurons, 11beta-HSD1 regenerates corticosterone from inert 11-dehydrocorticosterone and its inhibition by carbenoxolone is neuroprotective. 11beta-HSD1 knockout mice are protected against age-related cognitive dysfunction. We hypothesised that in elderly humans...

We describe the case of a 48-year-old woman, who presented with a history of six months' weight gain, easy bruising and difficulty in rising from a seated position. Examination revealed typical clinical features of Cushing's syndrome. She was hypertensive at 150/100 mmHg and diabetic. She was also agitated, emotionally labile, and disinhibited, requiring sedation. Her sister has MEN-1 (hyperparathyroidism and lung carcinoid tumour).Low-dose and high-dose...

Oxytocin drives parturition by contracting the uterus, but transgenic mice with no oxytocin appear to give birth normally. We have previously shown that oxytocin antagonist administration delays births showing that oxytocin plays a role in normal mouse parturition. Here, we tested the hypothesis that oxytocin neurones are active during parturition, using double immunocytochemistry for Fos and oxytocin to show neuronal activation and radioimmunoassay of blood samples to seek in...

Background: Steroid hormones such as the estrogen 17β-estradiol and the androgen testosterone play an important role in the etiology of hormone dependent diseases. To investigate factors influencing endogenous steroid hormone synthesis also biologically less active glucuronides and sulfates should be considered since they can serve as circulating reservoir for bioactive hormones. As the sensitivity of the available mass spectrometry (MS)-based method is lower for glucuron...

Aryl hydrocarbon receptor-interacting protein (AIP) is a highly expressed, evolutionary conserved little-known co-chaperone molecule that can bind to client proteins. Heterozygous loss-of-function mutations of AIP are associated with pituitary adenomas. Multiple lines of evidence suggest that AIP has important functions beyond the pituitary gland. Homozygous loss of AIP is lethal, with cardiac abnormalities seen in mice and failure-to-thrive seen in fruit flies and C.elegans. ...

Background: CT Angiography (CTA) is a frequently used modality of imaging for assessment and diagnosis of patients presenting with acute stroke. There is a paucity of data on management guidelines for the presence of incidental thyroid nodules found on CT Angiography in patients presenting with acute stroke.Methods: A retrospective analysis was conducted on 2092 patients presenting with acute stroke, identified through t...

A 75-year-old lady was referred to our centre from a local DGH, where she presented with constipation, reduced consciousness and acute confusion. She was found to have severe hypercalcaemia (Adjusted Calcium 5.21mmol/l), with PTH of 1473ng/l, and urine calcium of 13.8mg/24 h. Based on available biochemistry, a presumptive diagnosis of Parathyroid Carcinoma was made, and Hypercalcemia management was started. She was given about 3 litres of fluid and 60mg of pamidronate. Subsequ...