Endocrine Abstracts

Runx2 and Osterix(Osx) have been known as the master transcription factors for bone formation. However, genes that act downstream of both Runx2 and Osx have not been fully studied. To investigate downstream target genes of Runx2 and Osx, DNA microarray was conducted in calvaria of WT, Runx2ΔC/+, Osx+/−, and Runx2ΔC/+; Osx+/− double heterozygous mice designated WT, Runx2het, Osxhet, and Doub...

Background: Osteogenesis imperfecta (OI) is a heritable disease of the connective tissues caused primarily by heterogeneous mutations in the genes encoding for type I collagen. Phenotypically, it is characterized by abnormal bone mineralization, tissue fragility, and skeletal deformities.Objective: The aim of this study was to investigate the osteoclastogenic potential of unfractionated peripheral blood mononuclear cells (PBMCs) from OI patients (mean ag...

Hypoparathyroidism, a rare endocrine disorder of insufficient parathyroid hormone, leads to hypocalcemia and often hyperphosphatemia. The PARADOX study assessed the clinical and personal disease impact from the affected patients’ perspective.Patients ≥18 years and diagnosed ≥6 months ago completed a non-validated, self-reported, web-based survey.Three hundred and seventy-four US adults (mean age, 49 years; women, 8...

In hypoparathyroidism, inadequate levels of parathyroid hormone (PTH) result in hypocalcemia and often hyperphosphatemia. Large doses of calcium (Ca) and active vitamin D are typically used to manage symptoms, although these are often associated with complications and do not address the underlying PTH deficiency. In the phase III REPLACE trial, 24 weeks of treatment with rhPTH(1–84) was associated with maintained serum Ca without urine Ca excretion increases despite clini...

PTH promotes conversion of 25-hydroxyvitamin D (25[OH]D) to 1,25-dihydroxyvitamin D (1,25[OH]2D), thus stimulating intestinal calcium and phosphate absorption. Because of low PTH levels in hypoparathyroidism, patients are prescribed calcitriol. Patients are predisposed to hyperphosphatemia owing to loss of PTH-stimulated phosphate excretion by the kidneys. Effects of rhPTH(1–84) on vitamin D metabolism and serum phosphate were studied.In ...