Endocrine Abstracts

Mutations in the gene for 3′-phospho-adenosine-5′-phosphosulfate synthase 2 (PAPSS2) are linked to bone and cartilage mal-formation. More recently, we could identify PAPSS2-mutations as mono-genetic cause for androgen excess in women due to apparent SULT2A1 deficiency, the enzyme responsible for sulfation of the testosterone precursor DHEA that relies on PAPS provision by PAPS synthases. The only human orthologue, PAPSS1, is expressed in the affected tissu...

Aim: To evaluate the management of patients with hyperthyroidism against recommendations of the American Thyroid Association (ATA).Methods: The case records of all new patients referred with hyperthyroidism, 02.05.2009–01.04.2011, were analysed (n=33), against recommendations of ATA.Results: 73% of the subjects were women. 24% patients had Graves’ disease, 18% MNG, 18% thyroiditis, 15% ‘autoimmune hyperthyr...

Real life experience of 8 people with adrenal insufficiency using subcutaneous hydrocortisone infusion in continuous and pulsatile regimens recruited through hydrocortisone pump support groupBackground: Subcutaneous hydrocortisone (HC) infusion using continuous (CSHI) and pulsatile (PSHI) regimes are treatment options for adrenal insufficiency. It is an off-labelled treatment in UK for patients with adrenal insufficiency (AI).Both ...

Background: The pulsatile endogenous cortisol secretion is crucial for ultradian rhythmicity in blood and this rhythmicity triggers pulses of gene signaling in tissues. Disturbances in cortisol pulsatility can lead to cognitive, metabolic and cardiovascular dysfunction, and could explain why patients with primary adrenal insufficiency on conventional glucocorticoid replacement have reduced quality of life, increased mortality and are at risk of cardiovascular complications. Pu...

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labelled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which is usually associa...

Introduction: The presence of truncated variant of somatostatin receptors (SSTR) has been demonstrated in pituitary tumours. These variants seems act as dominant negative of SSTR and induce the resistance to SST analogue (SSTA) treatment. A variant of SSTR5, sst5TMD4, has been found to disrupt SST signalling in breast cancer cells. In present study, we assayed the expression of sst5TMD4 in two non-transformed epithelial prostate cell lines (EPC): EPN, derived from a normal sur...

Background: PCOS is associated with a clustering of cardiovascular risk factors. Increased serum levels of vascular endothelial growth factor (VEGF) are thought to be proatherogenic, and have also been found to be elevated in PCOS. This study was undertaken to determine the changes of VEGF in patients with PCOS after rimonabant and/or metformin intervention.Methods: A 6-month randomised open labelled parallel study of rimonabant or metformin in 20 patien...

C-type natriuretic peptide (CNP) is the ancestral and most highly conserved member of the mammalian natriuretic peptide family. Although broadly expressed throughout the periphery (bone, gonads, kidneys), CNP is the major natriuretic peptide of the brain and CNS and is suspected to influence neuroendocrine function. Our recent studies using fetal human pituitary samples has shown that the gene encoding CNP, NPPC, is expressed early on in pituitary development but a co...

Calcium mobilization from intracellular stores represents an important cell signalling process that is regulated, in mammalian cells, by inositol-1,4,5-triphosphate (IP3), cyclic ADP ribose (cADPR) and nicotinic acid adenine dinucleotide phosphate (NAADP). Intracellular calcium is important for mobilization of secretory granules to the plasma membrane in preparation for exocytosis. NAADP mobilizes calcium from lysosome-related acidic compartments and it has been sho...

Background: Intermittent fasting increase maximum lifespan in several species and this effect is associated with reduced protein synthesis signaling. During fasting, a progressive loss of protein in human skeletal muscle is evident. Furthermore, fasting is associated with increased lipid oxidation and insulin resistance.Aim: To define which protein metabolic mechanisms are activated in skeletal muscle during fasting.Methods: We inv...