Endocrine Abstracts

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

Objective: Growth hormone treatment (GHT) is a widely accepted treatment in growth hormone deficient (GHD) adults with nonfunctioning pituitary adenoma (NFPAs). However, concerns remain about the safety of GHT, because of its potentially stimulating effect on tumour (re)growth. The aim of this study was to evaluate tumour progression in NFPA patients using GHT.Patients and methods: From the Dutch National Registry of growth hormone treatment in adults, a...

Aberrant pseudoexon inclusion is rarely recognised as a cause of human disease. Here we report two novel, compound heterozygous mutations in nicotinamide nucleotide transhydrogenase (NNT), one of which activates a pseudoexon, as the cause of familial glucocorticoid deficiency in two siblings. Whole-exome sequencing identified a single novel, heterozygous variant (R71X) in both affected individuals. Follow-up cDNA analysis identified the pseudoexon inclusion (p.P998_D9...

Introduction: Thyroid carcinomas are the most often endocrine malignancy and their incidence is still growing. Thus, the finding of genetic predispositions to the thyroid cancer is desired. One of the genetic causes can be risk variants of tumor suppressor genes in patients. Our goal was to determine the influence of polymorphisms Val109Gly (T/G) in gene CDKN1B encoding protein p27/Kip1 and Arg72Pro (C/G) in gene TP53 encoding protein p53 on the development of thyroid cancer. ...

Background: Hashimoto´s thyroiditis (HT) and Graves´ disease (GD) are known co-aggregate in families, but the magnitude and nature of a shared etiology is unknown. The aim of this study was to estimate the shared genetic influence on these diseases. In addition, we sought to examine if the heritability of HT and GD differs between men and women.Methods: We used national health registries to identify cases of HT and GD in a cohort of 110 814 Swe...

Introduction: Patients who do not develop overt hypothyroidism after hemithyroidectomy for benign euthyroid goiter have permanently increased serum levels of TSH and decreased levels of thyroid hormones within the reference ranges. Thyroid hormones are major regulators of mitochondrial function, and the mitochondrial membrane potential (MMP) can be measured by flow cytometry analysis of living cells as the fluorescence intensity of stained peripheral mononuclear blood cells (M...

The aim of our study was to elucidated the role of mTOR-dependent intracellular signalling pathway in control of ovarian functions. For this purpose, we have examine the effect of three mTOR inhibitors (resveratrol, curcumin and synthetic mTOR blocker MC 2183 – Mai et al. 20051, at the doses 0, 1, 10, 100 μg/ml) on apoptosis and steroidogenesis by cultured Japanese quail ovarian granulosa cells. The release of steroid hormones (progesterone and te...

Context and objective: Active Cushing’s disease is associated with cognitive impairments. We hypothesized that previous hypercortisolism in patients with Cushing’s disease results in irreversible impairments in cognitive functioning. Therefore, our aim was to assess cognitive functioning after long-term cure of Cushing’s disease.Design: Cognitive assessment consisted of 11 tests, which evaluated global cognitive functioning, memory, and ex...

Background: Autoimmune polyendocrine syndrome type 1 (APS1) is a disorder caused by mutations of the autoimmune regulator (AIRE) gene, that controls central tolerance. Tetrahydrobiopterin (BH4)-dependent hydroxylases, consisting of tryptophan hydroxylase (TPH1 and TPH2), tyrosine hydroxylase (TH) and phenylalanine hydroxylase (PAH) are commonly targeted autoantigens. Nevertheless, detailed characterization of their epitopes and independent roles of TPH isoforms has ...

Although most pituitary tumors are benign, some are invasive or aggressive. In the absence of specific markers of malignancy, only tumors with metastases are considered malignant. Recently we identified a marker set of invasion, proliferation and aggressiveness in prolactin (PRL) tumors1. We will present the prognostic value of histological and molecular markers in PRL tumors and their usefulness in other types of pituitary tumors.Forty-five patients, 23...