Клиническая база ФГБУ «НMИЦ эндокринологии» Минздрава России – уникальная, не имеющая аналогов в мире инфраструктура, позволяющая оказывать лечебную помощь больным практически со всеми эндокринными заболеваниями, в том числе редчайшими. 2016 год ознаменовался открытием в ФГБУ «НMИЦ эндокринологии» Института репродуктивной медицины (директор – д.м.н., проф. Е.Н. Андреева). Высококвалифицированные ученые и опытные клиницисты объединили свои усилия для внедрения важнейших инновационных методов профилактики и лечения репродуктивных нарушений у больных с эндокринопатиями. На базе Института репродуктивной медицины ФГБУ «НMИЦ эндокринологии» планируется разработка фундаментального комплексного персонализированного алгоритма для оценки и поддержания репродуктивного здоровья мужчин и женщин с эндокринопатиями с момента зачатия и до глубокой старости. С этой целью будет проведено крупнейшее в своем роде (5000 больных) исследование, в рамках которого будут изучены генетические маркеры, а также применены самые современные лабораторные и инструментальные методы диагностики. Результаты позволят более эффективно диагностировать, предотвращать и лечить репродуктивные расстройства у больных с эндокринной патологией.
Endocrine Medical Research center (EMRC) of the Ministry of health of Russia is unique clinical center, that have no analogs in the world. All forms of endocrine disorders may be diagnosed and treated here by implication of innovative methods. Institute of reproductive medicine of EMRC was open on 2017, director of this institute – MD, PhD E.N. Andreeva. Staff of this institute include highly experienced investigators and physicians. One of the most ambitious projects of the institute is development of prevention, diagnostic and treatment algorithm for patients with infertility of endocrine origin. For these purposes large prospective clinical trial (5000 patients) will be conducted with implementation of most modern genetic, laboratory and instrumental diagnostic methods. Results of this trial will allow diagnose, treat and prevent reproductive pathology in patients with endocrine diseases.
Keywords: infertility, high-quality permanent draft genome sequence, personalized medicine, endocrine diseases, diabetes mellitus, hyperprolactinaemia, institute of reproductive medicine, EMRC.
Список литературы
1. Reproductive health. WHO. Available at: http://www.who.int/topics/reproductive_health/en/. Accessed May 22, 2017.
2. Кондратьева Т.А., Артымук Н.В. Современные подходы к диагностике и лечению бесплодия. Мать и дитя в Кузбассе. 2009;(2):3-7 [Kondrat'eva TA, Artymuk NV. Modern strategies for diagnosis and treatment of infertility. Mother and child in Kuzbass. 2009;(2):3-7 (In Russ.)].
3. Weiss RV, Clapauch R. Female infertility of endocrine origin. Arq Bras Endocrinol Metabol. 2014;58(2):144-52. doi: 10.1590/0004-2730000003021
4. Ring JD, Lwin AA, Köhler TS. Current medical management of endocrine-related male infertility. Asian J Androl. 2016;18(3):357-63.
doi: 10.4103/1008-682X.179252
5. Wang H, Gorpudolo N, Behr B. The role of prolactin- and endometriosis-associated infertility. Obstet Gynecol Surv. 2009;64(8):542-7.
doi: 10.1097/ogx.0b013e3181ab5479
6. Aitken RJ, Baker MA. Oxidative stress, sperm survival and fertility control. Mol Cell Endocrinol. 2006;250(1-2):66-9. doi: 10.1016/j.mce. 2005.12.026
7. Agbaje IM, Rogers DA, McVicar CM, McClure N, Atkinson AB, Mallidis C, Lewis SE. Insulin dependant diabetes mellitus: implications for male reproductive function. Hum Reprod. 2007;22(7):1871-7.
doi: 10.1093/humrep/dem077
8. Alves MG, Martins AD, Rato L, Moreira PI, Socorro S, Oliveira PF. Molecular mechanisms beyond glucose transport in diabetes-related male infertility. Biochim Biophys Acta. 2013;1832(5):626-35.
doi: 10.1016/j.bbadis.2013.01.011
9. Caburet S, Zavadakova P, Ben-Neriah Z, Bouhali K, Dipietromaria A, Charon C, et al. Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure. PLoS One. 2012;7(3):e33412.
doi: 10.1371/journal.pone.0033412
10. Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, et al. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod. 2009 Sep;24(9):2372-8. doi: 10.1093/humrep/ dep197
11. Perry JR, Corre T, Esko T, Chasman DI, Fischer K, Franceschini N, et al. A genome-wide association study of early menopause and the combined impact of identified variants. Hum Mol Genet. 2013;22(7):1465-72. doi: 10.1093/hmg/dds551
12. Chang CY, Chen Y, Lin WC, Chen CM, Chen CP, Lee SC, et al. MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study. BMC Med Genet. 2012;13:15.
doi: 10.1186/1471-2350-13-15
13. Wang YA, Healy D, Black D, Sullivan EA. Age-specific success rate for women undertaking their first assisted reproduction technology treatment using their own oocytes in Australia, 2002-2005. Hum Reprod. 2008;23(7):1633-8. doi: 10.1093/humrep/den135
14. Turkyilmaz E, Guner H, Erdem M, Erdem A, Biri AA, Konac E. NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment. Gene. 2012 Oct 15;508(1):140-3.
doi: 10.1016/j.gene.2012.07.031
15. Ewens KG, Jones MR, Ankener W, Stewart DR, Urbanek M, Dunaif A, et al. FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. PLoS One. 2011;6(1):e16390.
doi: 10.1371/journal.pone.0016390
16. Zurawek M, Wender-Ozegowska E, Januszkiewicz-Lewandowska D, Zawiejska A, Nowak J. GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes. Diabetes Res Clin Pract. 2007;76(1):157-8. doi: 10.1016/j.diabres.2006.08.001
17. Beim PY, Elashoff M, Hu-Seliger TT. Personalized reproductive medicine on the brink: progress, opportunities and challenges ahead. Reprod Biomed Online. 2013;27(6):611-23. doi: 10.1016/j.rbmo. 2013.09.010
________________________________________________
1. Reproductive health. WHO. Available at: http://www.who.int/topics/reproductive_health/en/. Accessed May 22, 2017.
2. [Kondrat'eva TA, Artymuk NV. Modern strategies for diagnosis and treatment of infertility. Mother and child in Kuzbass. 2009;(2):3-7 (In Russ.)].
3. Weiss RV, Clapauch R. Female infertility of endocrine origin. Arq Bras Endocrinol Metabol. 2014;58(2):144-52. doi: 10.1590/0004-2730000003021
4. Ring JD, Lwin AA, Köhler TS. Current medical management of endocrine-related male infertility. Asian J Androl. 2016;18(3):357-63.
doi: 10.4103/1008-682X.179252
5. Wang H, Gorpudolo N, Behr B. The role of prolactin- and endometriosis-associated infertility. Obstet Gynecol Surv. 2009;64(8):542-7.
doi: 10.1097/ogx.0b013e3181ab5479
6. Aitken RJ, Baker MA. Oxidative stress, sperm survival and fertility control. Mol Cell Endocrinol. 2006;250(1-2):66-9. doi: 10.1016/j.mce. 2005.12.026
7. Agbaje IM, Rogers DA, McVicar CM, McClure N, Atkinson AB, Mallidis C, Lewis SE. Insulin dependant diabetes mellitus: implications for male reproductive function. Hum Reprod. 2007;22(7):1871-7.
doi: 10.1093/humrep/dem077
8. Alves MG, Martins AD, Rato L, Moreira PI, Socorro S, Oliveira PF. Molecular mechanisms beyond glucose transport in diabetes-related male infertility. Biochim Biophys Acta. 2013;1832(5):626-35.
doi: 10.1016/j.bbadis.2013.01.011
9. Caburet S, Zavadakova P, Ben-Neriah Z, Bouhali K, Dipietromaria A, Charon C, et al. Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure. PLoS One. 2012;7(3):e33412.
doi: 10.1371/journal.pone.0033412
10. Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, et al. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod. 2009 Sep;24(9):2372-8. doi: 10.1093/humrep/ dep197
11. Perry JR, Corre T, Esko T, Chasman DI, Fischer K, Franceschini N, et al. A genome-wide association study of early menopause and the combined impact of identified variants. Hum Mol Genet. 2013;22(7):1465-72. doi: 10.1093/hmg/dds551
12. Chang CY, Chen Y, Lin WC, Chen CM, Chen CP, Lee SC, et al. MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study. BMC Med Genet. 2012;13:15.
doi: 10.1186/1471-2350-13-15
13. Wang YA, Healy D, Black D, Sullivan EA. Age-specific success rate for women undertaking their first assisted reproduction technology treatment using their own oocytes in Australia, 2002-2005. Hum Reprod. 2008;23(7):1633-8. doi: 10.1093/humrep/den135
14. Turkyilmaz E, Guner H, Erdem M, Erdem A, Biri AA, Konac E. NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment. Gene. 2012 Oct 15;508(1):140-3.
doi: 10.1016/j.gene.2012.07.031
15. Ewens KG, Jones MR, Ankener W, Stewart DR, Urbanek M, Dunaif A, et al. FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. PLoS One. 2011;6(1):e16390.
doi: 10.1371/journal.pone.0016390
16. Zurawek M, Wender-Ozegowska E, Januszkiewicz-Lewandowska D, Zawiejska A, Nowak J. GCK and HNF1alpha mutations and polymorphisms in Polish women with gestational diabetes. Diabetes Res Clin Pract. 2007;76(1):157-8. doi: 10.1016/j.diabres.2006.08.001
17. Beim PY, Elashoff M, Hu-Seliger TT. Personalized reproductive medicine on the brink: progress, opportunities and challenges ahead. Reprod Biomed Online. 2013;27(6):611-23. doi: 10.1016/j.rbmo. 2013.09.010
Авторы
О.Р. Григорян, Е.Н. Андреева, И.И. Дедов
ФГБУ «Национальный медицинский исследовательский центр эндокринологии» Минздрава России, Москва, Россия
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O.R. Grigoryan, E.N. Andreeva, I.I. Dedov
Endocrine Medical Research center, Ministry of Health of Russia, Moscow, Russia