Endocrine Abstracts

Sexual dimorphisms have been observed in numerous diseases, particularly those associated with inflammation. Generally, males are more at risk of developing infection and subsequent mortality1, whilst women are more prone to develop autoimmune disorders2. Hormones, particularly oestrogens, are thought to play a significant role effecting these dimorphisms, and oestrogens have been shown to reduce the severity of sepsis3.I...

11β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1) converts inactive glucocorticoid to their active form (cortisone to cortisol in humans, 11-dehydrocorticosterone (11-DHC) to corticosterone in mice), and is dependent upon the presence of cofactor NADPH generated by the enzyme hexose-6-phosphate (H6PDH) for its activity. The 11β-HSD1/H6PDH system is implicated in the pathogenesis of the metabolic syndrome by generating tissue specific glucocorticoid excess. The ...

The association of low body weight due to excessive exercise and/or eating disorders, and hypothalamic amenorrhoea is well documented. Delayed or arrest of puberty may occur if low body weight occurs before or during puberty. Normal menstruation is restored once a healthy body weight is regained. In this case, body weight normalised but ovarian function did not.A 34-year-old woman attended our thyroid clinic for subclinical hypothyroidism following an ep...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by ACTH resistance resulting in isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. Approximately 25% of cases result from mutations in the ACTH receptor (MC2R) and 20% result from mutations in the Melanocortin 2 receptor accessory protein (MRAP). MRAP is a small single transmembrane domain protein that is specifically required for trafficking MC2R to the ce...

Background: 11β-hydroxysteroid dehydrogenases (11β-HSD1&2) interconvert cortisol (F) and cortisone (E). Although 11β-HSD1 reductase activity has been measured in vivo, E production (dehydrogenase activity) has not been quantified using a Gold Standard technique, steady state tracer infusion.Aim: To develop a method to measure E production in vivo using the stable isotope tracer d2-cortisone (d2E).Me...

Insulinoma is a rare tumour, but is the commonest cause of hyperinsulinaemic hypoglycaemia in adults. It is characterised by symptomatic hypoglycaemia with inappropriately elevated plasma insulin and C-peptide levels. 10% of insulinomas are malignant. The coexistence of insulinoma with diabetes mellitus is extremely rare with only 20 previously reported cases. This can therefore pose a diagnostic challenge.An 83 year old man, who developed Type 2 diabete...

A para 2+0 female, 11 weeks gestation presented with vaginal bleeding and hyper-emesis. An ultrasound scan showed a dichorionic pregnancy with one viable foetus and a hydatiform mole. β-human chorionic gonadotrophin (β-hCG) level was elevated at 159845 U/L and subsequent thyroid biochemistry revealed hyperthyroidism. Serum thyrotrophin (TSH) was suppressed at <0.05 mU/L (NR 0.2–4.5), with a FT4 37 pmol/L (NR 9–24), and Free T3 of 17.8 nmol/L (NR 2.6&#15...

A girl with family history of a disorder of sex development (DSD) was referred for biochemical investigations and genetic analysis. Parents were consanguineous and a sibling was thought to have partial androgen insensitivity although androgen receptor gene analysis does not fully explain the phenotype. A maternal uncle with perineal hypospadias and a maternal aunt also had the mutation. One sister was normal, one brother had dextrocardia and another brother had mental retardat...

An important issue for all endocrinologists involved in management of non-functioning pituitary adenomas (NFAs) not treated surgically at initial presentation is the frequency and duration of follow-up neuroimaging. Previous studies have described tumour enlargement in less than 15% of microadenomas (<1cm diameter) with macroadenomas (1cm diameter or more) showing a greater propensity for growth. With improvements in neuroimaging techniques we felt that it was timely to rev...

It is now evident that ghrelin is more than just a growth hormone (GH) secretagogue; it plays an important role in energy homeostasis, increasing food intake and fat deposition, has cardiovascular effects, and inhibits cell proliferation.Ghrelin mRNA expression is widespread in human tissues, but little is known about the molecular mechanisms and signals that regulate gene expression at the transcriptional level. To address this we cloned and sequenced a 4kb region upstrea...