Endocrine Abstracts

Somatic stem cells of multiple tissues such as brain, blood, gut epithelium and epidermis, have specific roles in tissue homeostasis and plasticity of cell types. There is evidence that, when mutated, such cells, termed cancer stem cells (CSCs), also underlie tumorigenesis, but their presence in many tumours is elusive. In the pituitary gland, somatic stem cells (PSCs) have been previously identified and characterised in vitro and in vivo, but so far there is no ...

Objective: Addison’s disease (AD) is a rare and complex endocrine disorder. Genetic susceptibility loci known so far are predominantly shared with other, more frequent autoimmune endocrinopathies. We therefore investigated polymorphisms of the CTLA4-region, the vitamin D system (vitamin D receptor VDR, CYP24 and CYP27B1 gene) as well as cytokine CXCL10 gene for their association in AD.Methods: Patients with AD (n=203) and healthy controls (<i...

The mechanisms triggering autoimmunity in the Graves-Basedow disease (GBD) are unknown, although the evidence for a genetic predisposition is well established. The thyrotropin receptor (TSHR) is a good candidate gene.Objectives: To identify the main alleles/haplotypes of the TSHR gene, and to analyze the existence of TSHR susceptibility alleles to the GBD.Material and methods: To establish the main alleles of TSHR gene, 54 polymorp...

The cAMP signaling pathway plays an important role in cell proliferation and differentiation, and can be altered at multiple levels in endocrine tumors. Its central component is the protein kinase A (PKA). Inactivating mutations of PRKAR1A are observed in CNC (a dominant autosomal hereditary disease responsible for primary pigmented nodular adrenocortical disease, cardiac myxoma and lentiginosis). Most PRKAR1A mutations lead to mRNA unstability and protein degrad...

Introduction: Currently self-glycemic control by the patient is essential to achieve a right metabolic control of diabetes. Nowadays, there are different systems that have proved useful for this aim.Objectives: Valuing any possible differences between systems and the relation with glycemia identified in our laboratory.Material and methods: We took blood samples by vein-puncture to 41 patients, and simultaneously we measured capilla...

The ‘Multiple Endocrine Neoplasia’ predominantly affect the pituitary gland, parathyroids, thyroids, adrenal glands and pancreas. We present the case of a patient with three different functioning endocrine gland tumours, but who cannot be included in any of these groups.Case report: Sixty-five-years-old female with recurrent episodes of nephritic colic and hypertension for 2 years; non-specific gastrointestinal complaints, hirsutism, hyp...

The pocket protein family members, pRb, p107 and p130, are negative regulators of the cell cycle. But, while the role of pRB as a tumor suppressor has been extensively established, genetic inactivation of p107 or p130 is uncommon in tumors. Previous studies have shown that p130 cooperates with the CDK inhibitor p27Kip1 restricting proliferation of mouse intermediate lobe pituitary cells. Accordingly double knockout mice show higher incidence of pituitary tumors than single KO ...

Objective: To evaluate the associations between baseline leisure-time physical activity (LTPA) or changes in LTPA during follow-up on long-term weight changes, and to investigate the effects of physical activity in participants with baseline BMI<25 kg/m2 and baseline BMI≥25 kg/m2.Material and methods: Data of the prospective dynamic cohort (SUN cohort) were used. In total 12 117 participants, all of them university graduat...

Prediction of the biological behavior in non-functioning pituitary adenomas (NFPA) according to morphological criteria is highly inaccurate. Reliable prognostic molecular markers could be useful in providing guidance in NFPA post-surgical follow-up.Aim: To identify differentially expressed genes between aggressive and non-aggressive NFPAs and to assess their prognostic value.Methods: Samples analyzed were selected from a series of ...

GPR54 is a G protein coupled receptor identified in 2001 as the target for kisspeptin, the product of the KiSS-1 gene. Mutations in both kisspeptin and GPR54 lead to inherited failure to enter puberty (idiopathic hypogonadotropic hypogonadism) in the human, and a mutant mouse line with a targeted disruption of the Gpr54 receptor (Gpr54 -/-) has shown the same phenotype.Puberty begins when neurons in the hypothalamus begin pulsatile secretion of Gn...