Endocrine Abstracts

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...

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...

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...

Familial isolated primary hyperparathyroidism (FIPH) can result either from incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia types 1 (MEN 1), hyperparathyroidism-jaw tumor syndrome (HPT-JT), or familial hypocalciuric hypercalcemia (FHH)] or still unrecognized causes.We investigated the involvement of MEN1, HRPT2 and CASR genes by direct sequencing of germline DNA in seven...