Endocrine Abstracts

Irisin is a recently reported, widely discussed new adipo-myokin secreted mainly by muscle tissue. It is a cleaved and secreted part of fibronectin type III domain containing 5, encoded by the FNDC5 gene. Some of the previously published studies claim that alterations of irisin levels in patients affected by thyroid diseases may be connected mainly with accompanying myopathy. However, to date it has not been evaluated, whether the changes in expression of FNDC5</e...

Abstract: Nicotinamide phosphoribosyltransferase (NAMPT) overexpression was reported in many autoimmune diseases. We have also found NAMPT overexpression in leukocytes of patients with Graves’ orbitopathy. Therefore, we aimed to analyze NAMPT expression level in thyroid gland of patients with Graves’ disease with orbitopathy and without orbitopathy, and in healthy thyroid gland. We have analyzed 80 thyroid tissue samples of patients who underwent th...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant condition characterized by varying combinations of endocrine tumors and commonly accompanying hyperplasia within the parathyroid gland, anterior pituitary and gastrointestinal tract. Heterozygous germline mutation of the tumor suppressor gene MEN1 is the most common cause of the disease. Molecular genetic testing of menin gene, in which mutation is known to cause MEN1 syndrome, detects pathogenic...

Introduction: Some studies suggest that thyroid autoimmunity might be associated with increased cardiovascular-risk. However, the exact pathophysiology of this relationship has not yet been fully understood. In this study we aimed to analyze the influence of the levothyroixine (L-T4) replacement therapy and of anti-thyroperoxidase antibodies (TPOAbs) on homocysteine (Hcy) levels in patients with thyroid autoimmune disease.Method...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. It occurs in Europe with an incidence of 1:3000–1:4000.Thyroid dysgenesis – agenesis, hypoplasia or ectopy – is responsible for 80–90% of CH cases. An ectopic thyroid gland is an uncommon inborn anomaly and is typically located along the thyroglossal duct. To date only few cases of CH due to lingual thyroid diagnosed in adulthood were reported in the literature.</...

Background: Patients with acromegaly have substantially reduced quality of life (QoL). Delayed diagnosis is common and a long duration of untreated acromegaly leads to decreased QoL and increased morbidity and mortality.Aim: This longitudinal study examined QoL in patients with acromegaly who received lanreotide autogel.Material and Methods: This was a 2-year prospective, observational, multicenter study conducted in Poland (NCT023...

Introduction: Radioiodine therapy (RIT) in patients with Graves’ disease (GD) and orbitopathy (GO) is still controversial, especially in smokers, due to the risk of exacerbation of ophthalmologic symptoms.Aim: To evaluate the effect of RIT in smoking and non-smoking patients with mild GO in a 6-month follow-up.Patients and methods: We examined 26 smoking and 25 non-smoking patients, matched for age and gender, presenting hyper...

Isolated hypogonadotropic hypogonadism (IHH) is caused by impaired gonadoliberin (GnRH) gene regulation, synthesis or secretion of GnRH. Genetic factors of more than 50% of the IHH are still unknown. One the most common types of IHH is the Kallmann syndrome (KS) associated with anosmia or hyposmia. In view of technological progress and new possibilities for detecting changes in human genome a comprehensive targeted analysis using next-generation sequencing (NGS) was carried ou...

Introduction: Thyroid nodules may be detected in up to 67% of the adult population and constitute big diagnostic challenge. Presurgical differentiation of follicular lesions between follicular adenoma (FA) and follicular thyroid carcinoma (FTC) is particularly difficult. Commercially available gene panels cover only a few, selected mutations to help in discrimination between FA and FTC. The aim of this study was to comprehensively assess the genetic background of thyroid folli...

Introduction: The number of thyroid cancer diagnosis has increased worldwide. However, its diagnosis, particularly in a case of follicular cancer (FTC), may be challenging. New markers of malignancy are intensively searched for.Case description: A 29-year-old female was referred for subtotal thyroidectomy in 2006 due to a nodule in the right lobe. The histopathological examination revealed follicular adenoma (FA). During endocrinological follow-up, in 20...