Endocrine Abstracts

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...

We previously described aberrant expression of microRNAs belonging to the chromosome 19 cluster (C19MC) and the close miR-371-373 cluster in two-thirds of parathyroid carcinomas (PCas). Therefore, we investigated the involvement of the miR-371-373 cluster in parathyroid tumours, where miR-372 was the most consistently upregulated. miR-372 is known to be highly expressed in human embryonic stem cells and definitely downregulated upon differentiation. Moreover, miR-372 promotes ...

Though there is no evidence of a constitutive nuclear accumulation of β-catenin, the Wnt/β-catenin pathway might be deregulated in parathyroid tumours. We investigated unphosphorylated active β-catenin distribution by western blot in 16 typical parathyroid adenomas (PAds): β-catenin accumulation in the nuclear protein fractions varied from the levels detected in Caco-2 cells with constitutively active Wnt signalling (three PAds) to the levels measured in HE...

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...

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 ...

Primary hyperparathyroidism (PHPT) is a common endocrine disease mainly caused by a single parathyroid adenoma. Although the localization of the parathyroid adenoma is not a surgical criterion for parathyroidectomy (PTX), this is known to increase the cure rate and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line techniques to detect hyperfunctioning parathyroid tissue, however, they have some limitations including the operator-dependent s...