Searchable abstracts of presentations at key conferences in endocrinology

ea0035p1128 | Thyroid Cancer | ECE2014

Next-generation sequencing reveals a novel thyroglobulin-embedded microRNA gene deregulated in papillary thyroid carcinoma

Kolanowska Monika , Wojcicka Anna , Kubiak Anna , Swierniak Michal , Maciag Monika , Wiechno Wieslaw , Jazdzewski Krystian

Introduction: Papillary Thyroid Carcinoma (PTC) exhibits activation of MAPK (Mitogen-activated protein kinases) pathway, leading to uncontrolled cellular division and growth. Concomitantly, thyroid tumors exhibit aberrant expression of numerous microRNAs, which are non-coding RNAs that inhibit expression of protein-coding genes. Employing next-generation sequencing (NGS), we revealed comprehensive miRNA profiles of normal thyroid and PTC, and identified putative novel microRNA...

ea0070yi7 | Young Investigators | ECE2020

Congenital isolated follicle-stimulating hormone deficiency due to the FSHB gene mutation in a female patient – a rare case report

Paczkowska Katarzyna , Kolanowska Monika , Wikiera Beata , Bolanowski Marek , Jażdżewski Krystian , Daroszewski Jacek

Introduction: Mutations in FSHβ gene leading to isolated follicle-stimulating hormone (FSH) deficiency are very rare and the disorder is inherited in an autosomal recessive manner. Up to date, only few case reports have been described in the literature.Case report: 25-years old woman was admitted to the Endocrinology Department with a suspicion of FSH deficiency. She was firstly diagnosed with primary amenorrhoea and impaired pubertal development at...

ea0035p1124 | Thyroid Cancer | ECE2014

Functional analysis of newly discovered microRNA deregulated in papillary thyroid carcinoma

Maciag Monika , Kubiak Anna , Swierniak Michal , Dymecka Kinga , Kolanowska Monika , Koperski Lukasz , Gornicka Barbara , Stachlewska Elzbieta , Jazdzewski Krystian

Introduction: Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy where alterations in the RET/PTC–RAS–BRAF signaling pathway and deregulation of microRNA (miRNA) expression are suggested to be major mechanism of pathogenesis. MicroRNAs are small non-coding RNA molecules that recognize specific sequences in 3′UTR of target gene and prevent from its translation. Our recent deep sequencing studies of thyroid tissue transcriptome revealed a put...