problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201460638-44problendo-7054Research ArticleСтатьиArticlesРоль генетических факторов в патогенезе гипогонадотропного гипогонадизмаThe role of the genetic factors in pathogenesis of hypogonadotropic hypogonadismЕневаН ГEnevaN Glidia_nefedova@mail.ruНефедоваЛ НNefedovaL Nlidia_nefedova@mail.ruЛоктионоваА СLoktionovaA Slidia_nefedova@mail.ruИловайскаяИ АIlovaiskayaI Alidia_nefedova@mail.ruКимА ИKimA Ilidia_nefedova@mail.ruГБОУ ВПО "МГУ им. М.В. Ломоносова", МоскваM.V. Lomonosov Moscow State UniversityГБОУ ВПО "МГУ им. М.В. Ломоносова", Москва; ГБУЗ МО "МОНИКИ им. М.Ф. Владимирского", МоскваM.V. Lomonosov Moscow State University, Moscow; M.F. Vladimirov Moscow Regional Research Clinical Institute, MoscowГБУЗ МО "МОНИКИ им. М.Ф. Владимирского", МоскваM.F. Vladimirov Moscow Regional Research Clinical Institute; Moscow201415122014606ТОМ 60, №6 (2014)3844Copyright © Енева Н.Г., Нефедова Л.Н., Локтионова А.С., Иловайская И.А., Ким А.И., 20142014Енева Н.Г., Нефедова Л.Н., Локтионова А.С., Иловайская И.А., Ким А.И.Eneva N.G., Nefedova L.N., Loktionova A.S., Ilovaiskaya I.A., Kim A.I.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/7054

На сегодняшний день диагностика гипогонадизма использует данные рентгенологического и лабораторного (биохимического) исследований, на основании которых в большинстве случаев пациентам ставится диагноз идиопатической формы заболевания. Однако в последнее время выявлен целый ряд генов, нарушение функции которых приводит к развитию гипогонадизма. Таким образом, диагностика гипогонадизма может быть расширена путем включения генотипирования различных форм заболевания, что в некоторых случаях может способствовать выбору тактики лечения. Настоящий обзор посвящен установлению роли генов-кандидатов изолированного гипогонадотропного гипогонадизма в патогенезе заболевания.

Modern diagnostics of hypogonadism is based on the results of X-ray and laboratory (biochemical) investigations that reveal the idiopathic form of the disease in the majority of the patients. However, the recent studies have demonstrated a number of genes, whose disturbed function may be responsible for the development of hypogonadism. This creates the prerequisites for the extension of diagnostics of hypogonadism by means of genotyping of the various forms of the pathology in question and thereby may facilitate the choice of the relevant treatment strategy. The present review is focused on the elucidation of the pathogenetic role of candidate genes involved in the development of isolated hypogonadotropic hypogonadism.

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