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Clin Endocrinol (Oxf). 2012 Jul;77(1):1-10. doi: 10.1111/j.1365-2265.2012.04403.x.

Genetic aspects of adrenocortical tumours and hyperplasias.

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  • 1Division of Endocrinology, Department of Medicine, Health Sciences Centre, Universidade Estadual de Londrina, Londrina, Paran√°, Brazil.


Adrenocortical tumours (ACT), which include adenomas, carcinomas and adrenal hyperplasia, may be associated with genetic syndromes, such as Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia type 1, familial adenomatous polyposis and Carney complex. Genetic defects have been found to be responsible for the disease in most of these syndromes, allowing genetic counselling to affected patients and family members. Here, we summarize the clinical criteria of these hereditary syndromes and briefly describe the genetic alterations related to them. In addition, we discuss the involvement of various genetic defects in the development of sporadic adrenocortical tumours.

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