Endocrine Abstracts

Background: The 24-hydroxylase enzyme is responsible for the degradation of 1,25-dihydroxyvitamin D3. Loss of function mutations of the gene encoding 24-hydroxylase, CYP24A1, may cause hypercalcaemia, nephrolithiasis and nephrocalcinosis, and are responsible for some cases of idiopathic hypercalcaemia of infancy.Case: The index case presented with faltering growth at 4 months old. She was hypercalcaemic with serum calcium 2.79 mmol/l (normal r...

Introduction: A Mucocele is a collection of mucus enclosed by sinus epithelium within the paranasal sinuses. The pathogenesis is debated but a history of nasal obstruction, nasal surgery, nasal polyps or trauma is common but not universal. Mucoceles can erode local bone structure and invade the orbits. Four cases of sphenoidal mucoceles presenting with headache, 1–15 years post trans-sphenoidal pituitary surgery have previously been reported. We present two cases of front...

Background:Galectin-3, a beta-galactosidase binding lectin, has been reported to be preferentially expressed in thyroid malignancies by many authors. Moreover, it has been claimed that galectin-3 is a useful adjunct to fine-needle aspiration (FNA) in the diagnosis of follicular thyroid lesions, a notorious pitfall of this test. Although galectin-3 does seem to be expressed more often in malignant thyroid lesions, especially papillary carcinomas, it is fr...

A 33 year old male was referred with poorly controlled hypertension. He gave no other past medical or family history. Despite therapy with multiple agents blood pressure was poorly controlled at 200/130 mm/Hg. Initial investigations which included renal ultrasound, magnetic resonance angiography and urine catecholamine excretion were all negative. Plasma renin concentration was suppressed (1 mu/ml/L, normal range 5 to 50) and plasma aldosterone was raised at 650 pmol/L (normal...

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

We have shown that linked polymorphisms in the aldosterone synthase gene (CYP11B2) are associated with hypertension and altered aldosterone production. However, the most consistent intermediate phenotype associated with this genetic variation is increased plasma 11-deoxycortisol (S) and urinary excretion of its metabolite, tetrahydrodeoxycortisol (THS); this is paradoxical as S is a substrate for the enzyme 11beta-hydroxylase, encoded by the neighbouring gene, CYP11B1. However...

Background: Cortisol availability to target tissues represents a complex interplay of synthesis, secretion, metabolism and excretion. A number of these processes are regulated by enzymes that are encoded by genes that are key candidates in determining the metabolic and cardiovascular phenotype in man. Measurement of a range of corticosteroid metabolites allows the activity of these enzymes to be inferred. We have studied the pattern of cortisol metabolite excretion in a large ...