Tytuł:

Genetic testing in selected rare endocrine disorders

Autor:

Kurzyńska, Anna

Temat i słowa kluczowe:

CAH ; NET ; paraganglioma ; genetic testing

Abstrakt:

Molecular testing is one of the key and rapidly developing diagnostic methods in modern endocrinology. Searching for genetic alterations not only makes it possible to establish the proper diagnosis or predict the clinical course of a given disease entity, but can also provide opportunities for therapy, especially in the era of personalized medicine. The purpose of this dissertation was to address issues related to genetic testing in selected rare endocrine disorders. Objects of the study: 1. A high correlation between genotype and phenotype in patients with the classical form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. A novel pathogenic variant of CYP21A2 previously not reported in the literature, was identified and characterized. 2. Assess the significance of selected single nucleotide genetic variants in the susceptibility and clinical course of neuroendocrine tumors. 3. Linking the atypical clinical course of aggressive hereditary paraganglioma to a pathogenic variant in the SDHD gene, previously described as of "uncertain clinical significance".

Miejsce wydania:

Kraków

Stopień studiów:

2 - studia doktoranckie

Dyscyplina:

endokrynologia

Instytucja nadająca tytuł:

Rada Dyscypliny Nauki medyczne

Promotor:

Przybylik-Mazurek, Elwira

Data:

2023

Data wydania:

2022

Typ:

Praca doktorska

Sygnatura:

ZB-137598

Język:

pol; eng

Prawa dostępu:

nieograniczony