Endocrine Abstracts

Pseudohypoparathyroidism type 1B (PHP-1B) is a rare, familial or sporadic, imprinting disorder due to the epigenetic dysregulation of the GNAS locus, whose main product is the α subunit of the stimulatory G protein (Gsα). Sporadic PHP-1B cases (spor-PHP-1B) display broad methylation abnormalities at multiple GNAS DMRs, but the underlying molecular mechanism is still unknown.Classically, PHP-1B patients show PTH and TSH resistance, but, in the p...

The total 25-hydroxy-vitamin-D (t-25OHD) level reflects the vitamin-D supply, but it is also influenced by the levels of vitamin-D-binding-proteins (DBP) and albumin. The type of dialysis influences the levels of serum proteins. The ‘free-hormone hypothesis’ states that only the free molecules (f25OHD) can diffuse intracellular. Our aim was to evaluate the total, calculated (c-f25OHD) and direct measured (dm-f25OHD) 25OHD levels in patients with chronic renal disease...

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

Numerous studies have identified several extra-skeletal health outcomes to be associated with vitamin D deficiency, yet a definitive causal link is yet to be discovered. Our recent 3D LC-nESI-FTMS proteomic analysis among normal and overweight but apparently healthy adult Saudis identified apolipoproteins, a known independent cardiovascular risk factor, as one of the serological molecular signatures that modulate vitamin D levels. The present interventional study aims to compa...

Hypoparathyroidism (HPT) is characterised by hypocalcaemia and impaired renal phosphate excretion and calcium conservation. Oral calcium supplements and calcitriol can improve serum calcium levels but lack the physiologic effects of PTH on renal reabsorption of calcium. RACE is an ongoing open-label study evaluating the long-term safety of recombinant human parathyroid hormone 1-84 (rhPTH[1-84], parathyroid hormone rDNA) in adults with HPT (NCT01297309). In this interim analys...

Introduction: Vitamin D is a liposoluble molecule which takes part in calcium–phosphorous homeostasis of the human body. Its optimum levels according to SEIOMM range between 30 and 75 ng/ml. Being liposoluble substances they require the presence of biliar salts for their absorption; 80% is absorbed in the yeyune and in a lesser extent in the duodene. The correct concentration of vitamin D is of key significance in obesity, particularly its visceral type. An excessive body...

Introduction: Upper gastrointestinal (UGI) symptoms are frequently encountered in patients with primary hyperparathyroidism (PHPT). Some of these symptoms may improve after PHPT treatment, while hypercalcemic state may also cause permanent effects. We aimed to evaluate UGI symptoms, UGI endoscopic and pathologic features and determine the relationship between these features with serum chromogranin A (CgA) and gastrin in PHPT patients.Methods: Seventy-one...

In primary hyperparathyroidism (pHPT) an exact localization of the pathological parathyroid gland(s) is essential before minimally invasive parathyroidectomy. We have previously shown in a small group of pHPT patients, that 11C-methionine-PET/CT provides additional information if 123I/99m Tc-sestamibi (MIBI) scan remains negative. The aim of the present study was to evaluate the clinical value of 11C-Met-PET/CT in a larger pHPT patie...

Background: Primary hyperparathyroidism (HyperPT) and primary hypoparathyroidism (HypoPT) are often underdiagnosed. Several strategies have been investigated in the past in order to identify diagnostic parameters, although the diagnosis of both HyperPT and HypoPT remains challenging so far, especially in asymptomatic patients. Calcium (Ca) and phosphorus (P) are inversely related together, thus the Ca/P ratio could be an useful tool to define these conditions. Recently, we pro...