Endocrine Abstracts

Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), co...

HDR syndrome is a rare condition with an autosomic dominant inheritance, firstly described in 1977. It is due to a mutation of GATA3 gene, a transcription factor expressed in parathyroid, inner ear, kidney, central nervous system and T lymphocytes. The most common manifestation is neurosensorial deaf, secondary to progressive degeneration of coclear cells. Hypoparathyroidism is present in 90% of patients that can be asymptomatic or, sometimes presents with ne...

Primary hyperparathyroidism (PHPT) is defined by hypercalcemia and high PTH levels. In recent years a variant of PHPT has been described, namely normocalcemic PHPT (NPHPT), which is characterized by normal serum calcium and high PTH levels, in the absence of other causes of secondary hyperparathyroidism. The epidemiology of NPHPT is poorly understood. We performed a survey in the early fall in a small Southern Italian village, in which all adult residents (n=1811) wer...

Introduction: The genetic basis of multiple endocrine neoplasia type 1 (MEN-1) syndrome is often represented by inactivating mutations of Men-1 gene, found in 50–80% of different series. Recently, other mutations of genes encoding for the CDKI complex (p15, p18, p21, and p27) and of the AIP gene have been described in a small number of Men-1-negative patients.Methods and results: Since 2002 we tested for Men-1 mutations 16 patients born and living i...

The molecular basis of parathyroid tumorigenesis has increased greatly over the last years and the variety of described abnormalities suggests different genetic defects leading to dysfunction of parathyroid cells. Using a combined approach based on two-dimensional electrophoresis (2DE) and mass spectrometry (MS) we performed a comparative proteome analysis to examine the global changes of parathyroid adenoma tissues protein profile with respect to the normal parathyroid tissue...

Primary hyperparathyroidism (PHP) and growth hormone deficiency (GHD) are both associated with alterations of bone metabolism.GH secretion is frequently impaired in PHP patients; thus GH/IGF-I system alterations could be involved in the pathogenesis of osteoporosis.In the present study 50 post-menopausal women with PHP were evaluated by GH response to GH-releasing hormone (GHRH)+arginine (ARG) test and femoral neck bone mineral den...

Recently, we have reported a few cases of acute liver damage in patients with Graves’ ophthalmopathy (GO), during or following high dose intravenous (iv) glucocorticoid (GC) pulse therapy. In the present study we analyzed retrospectively liver enzymes (LE) in 294 consecutive patients with GO who underwent ivGC. LE were measured before or during ivGC, and in 91 patients also within 6 months after ivGC. An asymptomatic increase in LE (AST peak: 67–88 U/L, ALT peak: 75&...

The kidney is an important target of primary hyperparathyroidism (PHPT). The 4th International Workshop for the management of Asymptomatic PHPT included the presence of hypercalciuria (24-h urinary calcium > 400 mg/day) and increased stone risk by biochemical stone risk profile as criteria for surgery. Increased stone risk profile was defined as at least one between ßCaOx>4 and ßHPO4>2, as defined in literature in a different study population. The aim of ...

Serum 25-hydroxy-vitamin D (25OHD) is considered the most reliable marker of vitamin D status. Adequate levels 25OHD of are necessary for pleiotropic effects of vitamin D, either skeletal or extra-skeletal. Traditional assays based on immunoassay often show an unsatisfactory accuracy and sensibility. A valuable alternative is Tandem Mass Spectrometry coupled to High Performances Liquid Chromatography (HPLC-MS-MS), that offers a good quantification accuracy, as the contribution...

Background: Temozolomide is an alkylating chemoterapic agent that ties a methyl to guanine, causing a base-pair mismatch and a DNA damage, resulting in cell death. Due to its lipophilic nature and its ability to cross the blood-brain barrier, this drug was originally used for malignant gliomas and later for aggressive pituitary tumors and carcinomas. Temozolomide is now recommended as first-line chemotherapy by the recently published ESE Clinical Practice Guidelines. Here we p...