Abstract :
[en] Pituitary adenomas (PA) usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of germline DNA alterations with a variety of impacts on pituitary cell biology, translating into a variable penetrance of the disease. Genetic causes must be considered in the
presence of specific clinical settings, such as familial occurrence of PA, with or without extrapituitary diseases, and may also be suspected in young patients with macroadenomas. We
<br />review the clinical implications of genetic predisposition, with special attention to Multiple Endocrine Neoplasia type 1 (MEN1), Carney’s complex (CNC) and FIPA (Familial Isolated Pituitary Adenoma), and the scenario of genetic screening in selected patients with an apparently sporadic disease is discussed.
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