Endocrine Abstracts

Somatostatin and its analogues negatively regulate the growth of multiple epithelial cell types. This anti-proliferative effect occurs through multiple mechanisms, one of which is cell cycle arrest at the G0/G1 phase. p27, a cyclin-dependent kinase inhibitor, has a negative influence on cell cycle progression, and there are recent data suggesting that somatostatin increases p27 levels. We have previously shown that pituitary adenoma cells contain less p27 protein than normal p...

Background: Although pituitary adenomas are common endocrine neoplasms, the background of their pathogenesis has not clearly revealed. G1/S checkpoint alterations of the cell cycle have already been described in these tumours. MicroRNAs (miRs) which are small, non-coding RNA molecules, and posttranscriptionally regulate protein expression have also identified as potential pathogenic factors in certain cases. Our aim was to determine miR expression profile in pituitary adenomas...

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

Aim: Clinical acromegaly is characterized by high GH secretion in the presence of high circulating IGF-I levels. We therefore hypothesized that the physiological IGF-I-GH negative feedback loop may be reset in somatotroph adenomas, and we investigated the role of type 1 IGF receptor (IGF-R) and GH receptor (GHR) by quantifying mRNA expression in somatotroph tumours, and investigated the possible presence of mutations of the GHR gene.Methods: Pituitary t...

Carney complex (CNC) is an autosomal dominant multiple neoplasia syndrome featuring cardiac, endocrine, cutaneous and neural tumours, as well as a variety of pigmented lesions of the skin and mucosa. Pituitary GH-secreting tumours are found in approximately 10% of patients with CNC. One of the genes responsible for CNC, the PRKAR1A gene, located on human chromosome 17q22-24, has recently been cloned. This represents a putative tumour suppressor gene, coding for the type 1alpha...

Familial isolated pituitary adenoma (FIPA) occurs if two or more members of a family develop pituitary adenoma with no features of multiple endocrine neoplasia type 1 or Carney complex. FIPA is an autosomal dominant disease with incomplete penetrance. FIPA families can be divided into two distinct groups based on genetic and phenotypic features. In 20% of FIPA families mutations have been identified in the aryl hydrocarbon receptor interacting protein (AIP) gene. The AIP-posit...