Endocrine Abstracts

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...