Endocrine Abstracts

Epi/genetic defects at the imprinted GNAS locus, that encodes the α subunit of the stimulatory G protein (Gsα), have been associated with a heterogeneous group of rare diseases, termed as Pseudohypoparathyroidism. Most GNAS-based disorders have the common feature of episodic de novo formation of heterotopic ossifications (HO) in subcutaneous tissues. The mosaic tissue distribution of HO suggests that pathogenesis involves an abnormal differentiation of precu...

Sclerostin is a major negative regulator of osteoblastic activity at tissue level. Serum sclerostin levels have been associated with bone mineral density and increased fracture risk. However, the relation between serum levels and expression on tissue levels is unknown. The aim of this study was to investigate this relationship. We used serum samples and bone biopsies from 26 patients that were available from a large randomised clinical trial, investigating with the effect of r...

Klotho (KL) is a type-I-membrane protein required for FGF23 to bind FGFR1 and modulate mineral ion homeostasis. Loss of either KL or FGF23 results in severe mineralisation defects. We recently found that membrane KL is expressed in osteoblasts and osteocytes, which are major sites of FGF23 syntheses. To investigate the role of bone-specific KL in mineral ion homeostasis and the progression of bone mineralisation defects in chronic kidney disease, we generated a mouse strain wi...

Introduction: It is known that patients with primary hyperparathyroidism (PHPT) have an increased cardiovascular morbidity and mortality. In our study, we aimed to investigate the cardiovascular risk factors in medically observed and operated PHPT patients.Materials and methods: Twenty-nine medically observed (group A), 25 pre-operative (group B) and 23 post-operative (group C) patients with PHPT and 26 normocalcemic patients as control group (group D) w...

Hypoparathyroidism is a rare endocrine deficiency due to inadequate amounts of parathyroid hormone (PTH) and is characterised by hypocalcaemia and hyperphosphataemia. Current management regimens with large amounts of oral calcium and active vitamin D do not adequately control mineral homeostasis and can lead to complications in many patients. The phase III REPLACE and RELAY clinical trials established the efficacy and safety of once-daily s.c. injection of r...