Endocrine Abstracts

A 28 year old female was referred to endocrinology after routine bloods during first trimester of pregnancy demonstrated a low alkaline phosphatase (ALP) of 14U/l (range 30-130U/l). Calcium, phosphate and vitamin D were normal. There is no past medical history, no fragility fractures, no dental concerns and height was normal (157.5cm). Her only family history was her mother lost her teeth prematurely. Biochemical testing showed a raised copper level of 26.0µmol/l (range 1...

Metastatic disease to the thyroid is rare, accounting for 2–3% of thyroid malignancy. The most common malignancy to metastasise to thyroid is renal cell carcinoma (48.1%), followed by colorectal (10.4%) and lung (8.3%). Clinically, clear cell renal cell carcinoma (CCRCC) can present with thyroid metastases years or decades later. Several studies have shown that thyroid gland abnormalities, including nodular goitre or thyroiditis, are more likely to harbour metastases....

Introduction: Diabetic ketoacidosis remains the leading cause of morbidity and mortality in children with type 1 diabetes. BSPED guidelines for management of paediatric DKA were revised in 2009.Methods: We performed a telephone questionnaire of all 13 centres in Scotland who provide inpatient paediatric (<16 years) care, and reviewed their DKA guidelines. These were audited against the 2009 BSPED guidelines. Criteria studied were; method of ketone me...

Familial hypocalciuric hypercalcaemia (FHH) is a rare autosomal dominant condition due to a mutation in the calcium-sensing receptor gene (CaSR). The CaSR is located on chromosome 3 and mutations are commonly heterozygote mutations causing loss of function. Heterozygote mutations demonstrate benign disease with mild, asymptomatic hypercalcaemia. Homozygous mutations in the CaSR usually present with neonatal severe hyperparathyroidism (NSHPT) in the first few weeks of life and ...

5alpha-Reductase 1 (5aR1) catalyses A-ring reduction of glucocorticoids and androgens. We previously demonstrated that transgenic disruption of 5aR1 predisposes male mice to fatty liver and insulin resistance when challenged with a high-fat diet. Here, we have dissected the contributions of androgens and glucocorticoids to the metabolic phenotype using 2 models of enzyme inhibition (trangenesis and pharmacology).Female 5aR1−/− mice (KO) and w...

We present the case of assumed ectopic GHRH from residual bronchial carcinoid on the basis of an elevated serum GH, an elevated IGF-1 impaired glucose tolerance and an acromegalic appearance. The patient was diagnosed with a left bronchial carcinoid in 1985, aged38 years. Treated with a left pneumonectomy. She remained well until she presented in 1994 with an oesophageal variceal bleed. She had no evidence of portal hypertension or liver disease. CT chest revealed a mediastina...

Hepatic A-ring reduction of glucocorticoids is enhanced in obesity, perhaps contributing to compensatory activation of the hypothalamic-pituitary-adrenal axis and adrenal androgen excess. One pathway activated is the formation of tetrahydro metabolites by two sequential steps catalysed by 5beta-reductase (5bR) followed by 3alpha-hydroxysteroid dehydrogenases (3HSD). However, regulation of these enzymes is understood poorly. 5bR and 3HSD are also involved in the conversion of c...

Glucocorticoid excess is associated with increased anxiety and accelerated cognitive decline. Concentrations of glucocorticoids within tissues, including the brain, are influenced by local metabolism. 5α-Reductase 1 (5αR1), expressed in brain, converts corticosterone to its A-ring reduced metabolites, which have a different spectrum of activities. Here, we investigated if mice homozygous for disrupted 5αR1 alleles (5αR1-KO) experience heightened anxiety and...

Anti-inflammatory salicylates improve insulin sensitivity, however the mechanism remains unclear. We have observed down-regulation of the glucocorticoid regenerating enzyme 11β-hydroxysteroid dehydrogenase 1 (11βHSD1) by salicylates in cultured adipocytes and in human adipose tissue after oral salsalate therapy, consistent with known transcriptional regulation of 11βHSD1 by pro-inflammatory cytokines. Since inhibition of 11βHSD1 improves insulin sensitivity...

The rate limiting steps of hepatic glucocorticoid clearance are via A-ring reduction by 5α- and 5β-reductases. Our recent in vitro studies suggested that products of 5α-reduction (eg 5α-tetrahydrocorticosterone) can activate glucocorticoid receptors and hence may contribute to glucocorticoid action in liver. Here we compared the effects of administering 5α-tetrahydrocorticosterone (5αTHB) in vivo with those of corticosterone (B)....