Minimal requirements for the elective “Genetics of Endocrine Diseases”
Compiled by Prof. Dr. Igaz Péter
Neptune code: AOSEDT869_1A
Main forms of genetics based endocrine diseases
Definition of genetic counseling
Levels of prevention of genetic diseases
Monogenic inheritance patterns (autosomal dominant and recessive, X-linked dominant and recessive)
Definition of penetrance
Definition of genomic imprinting and its endocrinological relevance
Main features of multiple endocrine neoplasia syndromes
Multiple endocrine neoplasia type 1 – main forms and genetics
Multiple endocrine neoplasia type 2 – main forms and genetics
von Hippel-Lindau syndrome – main forms, pathogenesis, genetics
Hereditary paraganglioma syndromes -main forms, genetics
Genetics of pituitary tumors
Genetics of hypopituitarism (maini transcription factors)
Monogenic diseases predisposing to adrenocortical cancer (Li-Fraumeni, Beckwith-Wiedemann syndrome)
Genetics of McCune-Albright syndrome
Main features of pheochromocytoma/paraganglioma genetics
Genetics of differentiated thyroid cancer
Genetics of congenital adrenal hyperplasia (21 hydroxylase deficiency), forms, clinical picture
Genetics of primary aldosteronism, familial hyperaldosteronism type 1
Sex chromosome abnormalities (Klinefelter-syndrome, Turner-syndrome) genetics and clinical features
Prader-Willi syndrome: genetics and clinical features
Genetics of phenylketonuria
Genetics of monogenic diabetes mellitus (MODY forms)