Endocrine Abstracts

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 criteria for parathyroidectomy, this is known to increase the cure rate of PHPT and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line localization techniques to detect parathyroid adenomas, however, they have some limitations including the operator-dependent se...

The ‘canonical’ Wnt/β-catenin pathway plays an important role in the development and patterning of bone. Dkk1 (Dickkopf1) and sclerostin are competitive soluble inhibitors of this pathway. Serum sclerostin is decreased in patients with primary hyperparathyroidism (PHPT) compared to the healthy subjects and hypoparathyroid (HypoPT) patients. No data are currently available on Dkk1 serum level in PHPT.We evaluated serum Dkk1 and sclerostin l...

Atypical parathyroid adenomas represent a subset of tumors with histological features worrisome for carcinoma (PC), such as trabecular growth, fibrous bands and increased mitotic activity without unequivocal criteria of malignancy (local recurrence and/or metastasis). The question of whether these lesions might represent an anticipation of an aggressive clinical behavior that overtime may acquire the full blown features of malignancy remains to be established.<p class="abs...

Tumoral calcinosis is a rare autosomal recessive disease characterized by hyperphosphatemia due to increased renal phosphate reabsorption leading to soft tissue calcifications. The levels of fibroblast growth factor 23 (FGF23), a hormone required for normal renal phosphate reabsorption, are typically low in the classic form of the disease due to homozygous missense mutations in FGF23 or in the UDP-Nacetyl-alpha-D galactosamine:polypeptide N-acetylgalactos...

Aim of this 2-year, prospective, randomized study is to compare the effect of parathyroidectomy (PTX) vs no treatment in patients with asymptomatic primary hyperparathyroidism (PHPT), who didn’t meet the 1991 NIH criteria for surgery. The study was approved by our local Ethical Committee. The primary endpoint was the change in lumbar spine bone mineral density (BMD); secondary endpoints were BMD changes at femur and distal radius, markers of bone turnover, quality ...

We describe a 39-yr-old man with recurrent sporadic primary hyperparathyroidism (PHPT). In 1987, at the age of 21 yr, a severe form of PHPT was diagnosed [serum calcium 17.3 mg/dl; C-PTH 3.17 ng/ml (<0.88 ng/ml), cortical thinning and erosion] and a right parathyroid adenoma was removed. Three years later recurrence of PHPT was diagnosed but no treatment was initially advised. In 1993 the patient underwent cervical exploration and a right parathyroid adenoma was excised. S...

Familial Hypocalciuric Hypercalcemia (FHH) is an autosomal dominant disorder characterized by moderate and lifelong hypercalcemia, relative hypocalciuria, and inappropriately normal serum PTH levels. Loss-of-function mutation of the CaR are responsible for this disease.In this study we describe three unrelated Italian kindreds (A, B and C) and one patient with FHH. The diagnosis of FHH in the propositus was suspected on the finding of hypercalcemia, norm...

The G protein-coupled calcium sensing receptor (CaSR), widely expressed on the surface of parathyroid chief cells and in the kidney, plays a central role in calcium homeostasis. Activating mutations of CaSR gene are responsible for autosomal dominant hypocalcemia (ADH), a rare disorder caused by hypocalcemia, hyperphosphatemia, hypercalciuria and inadequately low concentration of parathyroid hormone (PTH). In this study, we report a family affected by ADH. The proband...

Pseudohypoparathyroidism (PHP) is group of heterogeneous disorders characterized by hypocalcemia, hyperphosphatemia and elevated paratormone (PTH) levels as a result of end-organ resistance to PTH. Basal ganglia calcification (BGC) in states of hypoparathyroidism is not uncommon. In PHP, BGC can occur up to 50%; the pathogenesis is poorly defined. The aim of our study was to evaluate the prevalence of BGC at baseline observation in a series of patients with PHP followed at a t...

Introduction and aims: Primary Hyperparathyroidism (PHPT) is a common endocrine disease associated with hypercalcemia and elevated or inappropriately normal serum levels of PTH. Among PHPT manifestations, neuropsychological symptoms have been described, including depression, anxiety, loss of memory, impaired cognition, with a wide range (3-50%) depending on the study population. Neuropsychological/ccognitive symptoms in patients with PHPT have been evaluated as part of quality...