Endocrine Abstracts

Angiogenesis, which is tightly regulated in health and disturbed in many diseases, is inhibited by glucocorticoids. Local glucocorticoid availability within the vessel wall is determined by the pair of enzymes 11beta-hydroxysteroid dehydrogenase type 1 and 2 (11HSD-1 and 2) that catalyse the interconversion of active glucocorticoid (corticosterone in mice, cortisol in humans) with inactive 11-dehydrocorticosterone or cortisone. We hypothesized that regeneration of active gluco...

Graves' disease, which is characterised by thyrotoxicosis and a diffuse goitre, is an autoimmune disease caused by thyroid-stimulating antibodies. The onset of Graves' disease whilst a patient is on immunosuppressive treatment is unexpected and remains a rarity.A 37-year-old Caucasian female presented to the thyroid clinic with a two week history of sweating, nausea, tremor, heat intolerance and palpitations. She was known to suffer from severe pustular ...

During development, the control of growth (mass increase) and cell division ensures that animals grow to reproducible sizes and contain cells that are consistent in size and number. We are interested in understanding more about how growth is regulated during development to achieve this. By studying the development of Drosophila imaginal discs (simple epithelial structures that give rise to the epidermal structures of the adult fly), we have found that signalling via a p...

Context: Glucocorticoids have adverse systemic effects which may predispose to cardiovascular disease. The effect of glucocorticoid use on cardiovascular disease has not been assessed.Objective: To test the hypothesis that users of exogenous glucocorticoids have a dose-dependent increased risk of cardiovascular disease; in particular, that supraphysiological doses will be associated with cardiovascular disease.Design: A cohort study using a record linkage database....

A 70 yr old man presented with an episode of syncope and complaints of leg weakness. He was hypogonadal with coarse facial features and a marked proximal myopathy. Hypopituitarism was confirmed biochemically: serum FT4 7.7 pmol/l (9.7-25.7), TSH 1.65 mIU/l (0.05-5.00), FSH 1.8 IU/l (1.6-18.0), LH 1.0 IU/l (2.0-18.0), testosterone 1.13 nmol/l (5.70-28.8) and 9am cortisol 122 nmol/l. Treatment with hydrocortisone and thyroxine was commenced. Further investigation revealed elevat...

Hirsutism of gradual onset is most commonly caused by polycystic ovarian syndrome (PCOS). Measurement of testosterone, sex-hormone binding globulin (SHBG), LH and FSH form part of the investigations. It is still a matter of debate at which level of testosterone further investigations are necessary to exclude an androgen-producing tumor.A 31-year-old woman presented with an eight-year history of hirsutism without her fertility and menstrual cycles being affected. Examinatio...

Case A:A 15 year old girl was found to have a sellar mass on MR in the course of investigations for secondary amenorrhoea. Prolactin was normal at 305 milliunits per litre and random coritsol was 92 nanomols per litre. She was lost to follow up, but re-presented 2 years later with lethargy and headaches. Investigations revealed hypopituitarism with low free T4, gonadotrophins, prolactin, oestradiol, and peak cortisol of 85 nanomols per litre and undetectable GH with insuli...

ApoB isoforms are components of the chylomicron, and of the atherogenic LDL and Lp(a) particles. Ex26 is exceptionally long at 7.57kb as most exons are <500bp. Ex26 is also the site of RNA editing, which generates the ApoB48 isoform instead of ApoB100. The first 3kb of ex26 contains 15 sequences matching the splice site consensus, which could be used in splicing, but are not. Splice sites matching the consensus but which are not used are called pseudosites. How the spliceos...

Parathyroid tumours occurring in association with ossifying fibromas of the jaw are the hallmarks of the hyperparathyroidism-jaw tumour (HPT-JT) syndrome, which is inherited as an autosomal dominant trait. The HPT-JT gene, which is located on chromosome 1q25, consists of 17 exons and encodes a 531 amino acid protein named PARAFIBROMIN (Nature Genetics, in press). The observation of loss of heterozygosity (LOH) involving 1q25 in HPT-JT parathyroid tumours and the detection of i...

There is little information on the effects on pituitary function of cranial irradiation for non-pituitary tumours. We have studied anterior and posterior pituitary function in 17 patients (6 males), with a median age 19 years (range 5-48) at the time of radiotherapy. 16 patients had primary brain tumours and one had acute lymphocytic leukaemia. The patients were selected by the radiotherapists for investigation . Pituitary functions were assessed at a median of 60 months (rang...