The enzyme succinate dehydrogenase (SDH) and its role in hereditary pituitary adenomas

• Format: Article
• Language: English
• Published: Endocrinology Research Centre 2013-12-01
• Series: Ожирение и метаболизм
• Subjects: pituitary adenomas; germline mutations SDH; MEN1; CDKN1B; PRKAR1A; AIP
• Online Access: https://endojournals.ru/index.php/omet/article/view/6384

Despite active research involving familial pituitary adenomas and characterization of five hereditary syndromes, the genetic defects in more than 80 - 95% of patients remain not found. Besides, there is more than 25 cases of coexistence of pheochromocytomas and pituitary adenomas described in literature that up to date is not integrated in any syndrome; genetic defects of such coexistence also aren't defined. However it is supposed that in pituitary tumorigenesis, germline mutations of SDH can take part that is obviously important aspect of further investigation. Germline mutations of SDH were found in patients with different phenotypes of pituitary adenomas. Studying of mutations in genes SDHD, SDHB, SDHC, SDHA and their prevalence in patients with familial pituitary adenomas or with phenotypes of multiple endocrine neoplasia without mutations in MEN1, CDKN1B, PRKAR1A, AIP genes can provide clarity in a role of mutations in SDH in endocrine and in particular pituitary tumorigenesis.