Endocrine Abstracts

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...

Megalin is a member of the LDL receptor family expressed by several epithelial cells where it mediates endocytosis of ligands. In the thyroid megalin is responsible for transcytosis of hormone-poor thyroglobulin (Tg) molecules. This process favors hormone release by preventing hormone-poor Tg to enter the lysosomal pathway, where hormones are cleaved from hormone-rich Tg molecules. Accordingly, megalin KO mice have a distinct thyroid phenotype with primary hypothyroidism. In r...

Whether TTA affects GO remains to be established. Here we studied the effects of TTA in 90 patients with mild-moderate GO randomized into 3 groups of thyroid treatment: MMI (methimazole), TX [near-total thyroidectomy (NTTX)], TTA (NTTX plus 131-I). Patients were treated with ivGC and evaluated at 3 and 9 mo. GO was considered improved or worsened when at least 2 of the following criteria changed, either positively or negatively: i) proptosis and/or eyelid width by at least 2 m...

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...

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...

Background: Sirolimus is an immunosuppressive drug with anti-fibrotic and anti-proliferative activities. In vitro, sirolimus inhibits differentiation of orbital fibroblasts from patients with Graves’ orbitopathy (GO), suggesting a possible use in clinical practice.Methods: We performed a retrospective investigation aimed at evaluating the effects of sirolimus as a second-line treatment for moderate-to-severe, active GO, compared with methyl...