Title:

Genetic testing in selected rare endocrine disorders

Author:

Kurzyńska, Anna

Subject:

CAH ; NET ; paraganglioma ; genetic testing

Abstract:

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".

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

endokrynologia

Degree grantor:

Rada Dyscypliny Nauki medyczne

Promoter:

Przybylik-Mazurek, Elwira

Date:

2023

Date issued:

2022

Type:

Praca doktorska

Call number:

ZB-137598

Language:

pol; eng

Access rights:

nieograniczony