Endocrine Abstracts

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by variable combination of more than 20 types of endocrine and non-endocrine tumors: typically parathyroid glands, pancreatic islet cells and anterior pituitary gland are involved. We studied 20 patients (10M and 10F), affered to our Pituitary Unit in a period of 10 years. All patients had clinical diagnostic criteria suspected for MEN1 (presence of two endocrine tumors at least) and und...

PATZ1 is a recently discovered zinc finger protein that, due to the presence of the POZ domain, acts as a transcriptional repressor affecting the basal activity of different promoters, and associates with a variety of transcription factors (i.e. RNF4, HMGA1, gscl, SPBP). We have previously described, by using mice lacking the PATZ1 gene, its crucial role in spermatogenesis. Consistently, PATZ1-KO mice are unfertile and testes from these mice showed only few spermatocyte...

Using gene expression profiling we found that the CBX7 gene was drastically down-regulated in six thyroid carcinoma cell lines versus control cells. This suggested that CBX7 is an oncosuppressor. The aim of this study was to determine whether CBX7 is related to thyroid cancer phenotype, and to try to identify new tools for the diagnosis and prognosis of thyroid cancer. We thus evaluated CBX7 expression in various snap-frozen and paraffin-embedded thyroid carcinoma tissues of d...

PATZ1, a member of the POZ-ZF protein family of transcription factors is emerging as an important cancer-associated factor that can act either as oncogene or tumour-suppressor depending on the cellular context. Consistent with a tumour-suppressor role in thyroid cells, we have shown that PATZ1 is highly downregulated in anaplastic thyroid carcinomas compared to normal thyroid tissue and is a powerful inhibitor of anaplastic thyroid cancer cell survival, migration, invasiveness...

Thyroid carcinoma arising from the thyroid follicular epithelium represents the most frequent endocrine malignancy and is mainly associated with gene rearrangements generating RET/PTC and TRK oncogenes, as well as BRAFV600E and RASV12 activating point mutations. Except for p53, which appears to be involved only in poorly differentiated and aggressive histotypes, a role of tumor-suppressor genes in the pathogenesis of thyroid cancer is still poorly known....

Introduction: Osteoporosis is a disease characterized by a low bone mass and the development of nontraumatic fractures, most commonly in the spine. However, bone mineral density (BMD) alone is not completely satisfactory in vertebral fracture risk assessment.Aim of the study: To identify clinical and laboratoristic factors associated with an increased risk of vertebral fractures in osteoporotic Caucasian women and to define a new clinically relevant scal...

Adult GHD patients may have reduced BMD with high risk of vertebral and non-vertebral fractures which is thought to be reverted by long-term rhGH replacement therapy. In this study we aimed at identifying the determinant factors of vertebral fractures, as assessed by a radiological morphometric approach, in a cohort of adult patients with untreated GHD. Forty-two patients (27 males, 15 females; median age: 48 years, range: 30–67) with untreated severe (as defined by a pea...

Adult GHD patients may have reduced BMD, which is thought to be reverted by long-term rhGH replacement therapy. We have recently reported high prevalence of vertebral osteoporotic deformities in untreated adult GHD patients. Gonadal status is the main determinant of bone loss in patients with primary form of osteoporosis.In this cross-sectional study, we investigated whether the prevalence and degree of spinal deformities in adults with treated or untrea...

Background: Primary empty sella (ES) can be asymptomatic or associated with endocrine and neurological alterations, such as visual defects. Studies in a large number of patients is still lacking.Objective: To study visual deficit in ES and its relationship with hormonal status.Material and Methods: We recorded visual evoked potentials (VEP) by white/black, red/black, blue/black patterns. Isoluminance between red and blue checks all...

In order to investigate the correlations between immunohistochemical picture with proliferative index (Ki-67), the clinical course and outcome of GH-secreting pituitary adenomas not cured by neurosurgery, we studied 41 consecutive acromegalic patients (M 12, F 29; aged 43±10.8 yr) previously undergone neurosurgical resection of adenoma. Two patients underwent neurosurgical intervention at least twice. Post-surgical follow-up ranged from 6 to 36 months and all patients rec...