Endocrine Abstracts

Thyroid hemiagenesis (TH) is a rare inborn anomaly presenting as failure of the development of one thyroid lobe. Recent research on the molecular background underlying thyroid dysgenesis have mainly focused on patients with congenital hypothyroidism; in contrast, subjects presenting TH were only sporadically involved. Changes in transcription factor genes, including TTF1, TTF2 and PAX8, which play an important role in thyroid embryogenesis, have been postu...

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...

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...

Purpose: The aim of the study was to investigate changes of visfatin/NAMPT serum concentration and its leukocyte expression in hyperthyroid patients.Material and methods: The study was designed as a single-center, cross-sectional with consecutive enrollment. We included all patients with newly diagnosed overt hyperthyroidism (Graves’ disease or toxic nodular goiter). Each subject underwent physical examination, laboratory investigation, body composi...

Introduction: Combined pituitary hormone deficiency (CPHD) results in deficit of growth hormone and coexisting failure of synthesis or excretion at least another pituitary hormone. Transcription factors controlling expression of genes required for pituitary organogenesis are orchestrating entire development process and certain cell lineages differentiation, contributing therefore significantly to CPHD pathogenesis with childhood onset.Aims: The purpose o...