Endocrine Abstracts

Graves’ ophthalmopathy (GO) in the majority of cases is modest and self-limiting and no treatment is required beside local measures and prompt control of thyroid dysfunction. A minority of patients (3–5%) have severe GO which warrants aggressive treatment to arrest further progression and eventually achieve regression of existing ocular signs and symptoms. Treatment of severe GO is a complex therapeutic challenge and available treatments provide unsatisfactory result...

Pseudohypoparathyroidism (PHP) refers to a group of heterogeneous genetic diseases, characterized by resistance to PTH and frequently other hormones activating cAMP-dependent events down-stream of different G protein-coupled receptors. PHP-Ia and Ib, the most frequent forms, are caused by mutations within the GNAS locus that encodes Gαs and several splice variants thereof. We describe a 36-year-old man with sporadic PHP-Ib with renal PTH-resistance, yet severe hyperparath...

A 38-year-old woman with chronic autoimmune thyroiditis and hypothyroidism treated with levothyroxine (125 μg/day) was referred to our outpatient clinic with a history of sudden increase of goiter, weakness, dysphagia, dyspnea and suffocating sensation. Physical examination showed an enlarged, stony thyroid gland (three times of normal), without palpable cervical lymph nodes. Biochemical evaluation showed the following abnormalities: TSH 6.0 μU/ml (0.4–4.3), fre...

Vitamin D deficiency is widespread among all age and ethnic groups. Serum 25-hydroxyvitamin D [25(OH)D] is the most reliable marker of vitamin D status. Adequate levels of serum 25(OH)D are necessary to sustain the pleiotropic effects of vitamin D, either skeletal (classical) or extra-skeletal (non-classical). Concentration levels ≧50 nmol/L (20 ng/ml) are required for optimal musculoskeletal health. However, levels above 75 nmol/L (30 ng/ml) may be necessary to maximiz...

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...

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...

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...