problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201460438-46problendo-7010Research ArticleСтатьиArticlesАденомы гипофиза в рамках наследственных синдромовPituitary adenomas in the framework of hereditary syndromesМамедоваЕ ОMamedovaE Olilybet@mail.ruПржиялковскаяЕ ГPrzhiyalkovskayaE Geditorial@endocrincentr.ruПигароваЕ АPigarovaE Aeditorial@endocrincentr.ruМокрышеваН ГMokryshevaN Geditorial@endocrincentr.ruДзерановаЛ КDzeranovaL Keditorial@endocrincentr.ruТюльпаковА НTyulpakovA Neditorial@endocrincentr.ruФГБУ «Эндокринологический научный центр» Минздрава РФ, МоскваРоссияEndocrinology Research Centre, MoscowRussian Federation201415082014604ТОМ 60, №4 (2014)5159Copyright © Мамедова Е.О., Пржиялковская Е.Г., Пигарова Е.А., Мокрышева Н.Г., Дзеранова Л.К., Тюльпаков А.Н., 20142014Мамедова Е.О., Пржиялковская Е.Г., Пигарова Е.А., Мокрышева Н.Г., Дзеранова Л.К., Тюльпаков А.Н.Mamedova E.O., Przhiyalkovskaya E.G., Pigarova E.A., Mokrysheva N.G., Dzeranova L.K., Tyulpakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/7010

Опухоли гипофиза в подавляющем большинстве случаев являются доброкачественными аденомами, но они по-прежнему представляют трудную задачу для эндокринологов и нейрохирургов, что обусловлено разнообразием их начальных клинических проявлений, невозможностью прогнозирования опухолевого роста и влиянием на качество жизни пациентов. Подавляющее большинство аденом гипофиза являются спорадическими, и лишь небольшая их доля возникает в рамках наследственных синдромов. Обсуждаются варианты наследственных синдромов, одним из проявлений которых являются различные опухоли гипофиза. С помощью молекулярных генетических исследований было обнаружено несколько генетических дефектов, которые могут вносить вклад в образование аденом гипофиза. Также были выявлены несколько генов, приводящих к наследственным формам опухолей гипофиза. Выявление генов, ответственных за развитие аденом гипофиза и патогенетических механизмов их возникновения, необходимо для улучшения диагностики и лечения таких пациентов, что, вероятно, будет способствовать улучшению прогноза и пониманию патогенеза спорадических аденом.

The overwhelming majority of the pituitary tumours are benign adenomas that remain a serious challenge to endocrinologists and neurosurgeons by virtue of great variety of their early manifestations, the impossibility to predict the neoplastic growth, and the influence exerted on the patients' quality of life. Most pituitary adenomas are sporadic tumours and only few of them develop in the framework of hereditary syndromes. The present review is focused on the variants of hereditary syndromes with special reference to various pituitary neoplasms. The molecular and genetic studies revealed several genetic defects that are believed to contribute to the formation of pituitary adenomas. Moreover, a few genes were identified responsible for the development of hereditary forms of pituitary tumours. Identification of such genes and pathogenetic mechanisms underlying the development of pituitary microadenomas is of paramount importance for the improvement of their diagnostics and treatment that in its turn may promote the understanding of pathogenesis of sporadic adenomas and improve their prognosis.

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The authors declare that there are no conflicts of interest present.