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Аплазия влагалища и матки (синдром Майера–Рокитанского–Кюстнера–Хаузера): этиология, патогенетические аспекты и теории формирования порока (обзор литературы)
Аплазия влагалища и матки (синдром Майера–Рокитанского–Кюстнера–Хаузера): этиология, патогенетические аспекты и теории формирования порока (обзор литературы)
Кругляк Д.А., Буралкина Н.А., Ипатова М.В. и др. Аплазия влагалища и матки (синдром Майера–Рокитанского–Кюстнера–Хаузера): этиология, патогенетические аспекты и теории формирования порока (обзор литературы). Гинекология. 2018; 20 (2): 64–66.
DOI: 10.26442/2079-5696_2018.2.64-66
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Аннотация
В статье представлена классификация пороков развития половых органов, отражены современные сведения об этиологии, патогенезе порока развития половых органов – аплазии влагалища и матки (синдром Майера–Рокитанского–Кюстнера–Хаузера).
Ключевые слова: аплазия влагалища и матки, этиология, классификация, эмбриогенез, генные нарушения.
Key words: aplasia of the vagina and uterus, etiology, classification, embryology, genetic disorders.
Ключевые слова: аплазия влагалища и матки, этиология, классификация, эмбриогенез, генные нарушения.
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Key words: aplasia of the vagina and uterus, etiology, classification, embryology, genetic disorders.
Полный текст
Список литературы
1. Макиян З.Н. Аномалии женских половых органов: систематизация и тактика оперативного лечения. Автореф. дис. … д-ра мед. наук. М., 2010. / Makiyan Z.N. Anomalii zhenskih polovyh organov: sistematizaciya i taktika operativnogo lecheniya. Avtoref. dis. … d-ra med. nauk. M., 2010. [in Russian]
2. Уварова Е.В. Детская и подростковая гинекология. Руководство для врачей. М.: Литтерра, 2009. / Uvarova E.V. Detskaya i podrostkovaya ginekologiya. Rukovodstvo dlya vrachej. M.: Litterra, 2009. [in Russian]
3. Sadler TW. Longman’s Medical Embryology. Williams&Wilkins USA, 2000.
4. Адамян Л.В., Кулаков В.И., Хашукоева А.З. Пороки развития матки и влагалища. М.: Медицина, 1998. / Adamyan L.V., Kulakov V.I., Hashukoeva A.Z. Poroki razvitiya matki i vlagalishcha. M.: Medicina, 1998. [in Russian]
5. Spencer JW, Hayashi K, Hu J, Cerpenter KD. Comparative developmental biology of the mammalian uterus. Curr Top Dev Biol 2005; 68: 8–122.
6. Grimbizis GF, Gordts S, Spiezio Di et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod 2013; 28 (8): 2032–44. DOI: 10.1093/humrep/det098
7. Алимбаева Г.Н. Сильные и слабые стороны классификаций пороков развития мюллеровых производных. Репродуктивное здоровье детей и подростков. 2014; 5: 22–9. / Alimbaeva G.N. Sil'nye i slabye storony klassifikacij porokov razvitiya myullerovyh proizvodnyh. Reproduktivnoe zdorov'e detej i podrostkov. 2014; 5: 22–9. [in Russian]
8. Адамян Л.В., Богданова Е.А. Оперативная гинекология детей и подростков. М.:ЭликсКос, 2004. / Adamyan L.V., Bogdanova E.A. Operativnaya ginekologiya detej i podrostkov. M.:EHliksKos, 2004. [in Russian]
9. Mayer CAJ (1829). Über Verdoppelungen des Uterus und ihre Arten, nebst Bemerkungen über Hasenscharte und Wolfsrachen. J Chir Auger 1829; 13: 525–65.
10. Arnold BW, Gilfeather M, Woodward PJ. Mullerian duct anomalies complicated by obstruction: evaluation with pelvic magnetic resonance imaging. J Womens imaging 2001; 3: 146–52.
11. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part I: morphology. Arch Gyn Obstetr 1998; 262 (1–2): 1–26.
12. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part II: embryology. Arch Gyn Obstetr 1998; 262 (1–2): 27–42.
13. Стрижакова М.А. Пороки развития влагалища и матки у девочек (клиническая лекция). Репродуктивное здоровье детей и подростков. 2005; 3: 39–44. / Strizhakova M.A. Poroki razvitiya vlagalishcha i matki u devochek (klinicheskaya lekciya). Reproduktivnoe zdorov'e detej i podrostkov. 2005; 3: 39–44. [in Russian]
14. Киселева И.А. Формирование пола человека. Репродуктивное здоровье детей и подростков. 2005; 4: 48–58. / Kiseleva I.A. Formirovanie pola cheloveka. Reproduktivnoe zdorov'e detej i podrostkov. 2005; 4: 48–58. [in Russian]
15. Адамян Л.В, Курило Л.Ф., Глыбина Т.М. и др. Аномалии женской репродуктивной системы: новый взгляд на этиологию, эмбриологию и классификацию. В кн.: Проблемы репродукции. Сб. тезисов III Междунар. конгр. по репродуктивной медицине. Под. ред. Г.Т.Сухих, Л.В.Адамян. М., 2009. / Adamyan L.V, Kurilo L.F., Glybina T.M. i dr. Anomalii zhenskoj reproduktivnoj sistemy: novyj vzglyad na ehtiologiyu, ehmbriologiyu i klassifikaciyu. V kn.: Problemy reprodukcii. Sb. tezisov III Mezhdunar. kongr. po reproduktivnoj medicine. Pod. red. G.T.Suhih, L.V.Adamyan. M., 2009. [in Russian]
16. Макиян З.Н. Варианты оперативного лечения при аномалиях половых органов. АГ-инфо. 2011; 1: 32–43. / Makiyan Z.N. Varianty operativnogo lecheniya pri anomaliyah polovyh organov. AG-info. 2011; 1: 32–43. [in Russian]
17. Rokitansky K (1838) Über die sogenannten Verdoppelungen des Uterus. Med Jahrb Ost Staat 1838; 26: 39–77.
18. Küster H (1910) Uterus bipartitus solidus rudimentarius cum vagina solida. Z Geb Gyn 1910; 67: 692.
19. Hauser GA, Schreiner WE. Mayer–Rokitansky–Küster syndrome: rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr 1961; 91: 381–4.
20. McQuillan SK, Grover SR. Dilation and surgical management in vaginal agenesis: a systematic review. Int Urogynecol J 2013; 25 (3): 299–311.
21. Khoder WY, Stief CG, Burgmann M et al. Laparoscopic reconstruction of an iatrogenic perforation of the neovagina and urinary bladder by a neovaginal dilator in a patient with Mayer–Rokitansky–Küster–Hauser syndrome. Int Urogynecol J 2015; 26: 1083–7.
22. Morcel K, Guerrier D, Watrin T et al. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: clinical description and genetics. J Gyn Obstetr Biol Reprod 2008; 37 (6): 539–46.
23. Torres-de la Roche LA, Devassy R et al. Plastic neo-vaginal construction in Mayer–Rokitansky–Küster–Hauser syndrome: an expert opinion paper on the decision-making treatment process. GMS Interdiscip Plast Reconstr Surg DGPW 2016; 5: 1–5.
24. Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer–Rokitansky–Küster–Hauser syndrome (congenital absence of uterus and vagina) – Phenotypic manifestations and genetic approaches. J Neg Res BioMedicine 2006; 5 (1).
25. Oppelt P, Renner SP, Kellermann A et al. Clinical aspects of Mayer–Rokitansky–Küester–Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod 2006; 21(3): 792–7.
26. Cezar C, Devassy R, Larbig A, De Wilde RL. Efficacy risks of the minimal-invasive plastic and reconstructive neovagina Vecchietti technique in Mayer–Rokitansky–Küster–Hauser syndrome. GMS Interdiscip Plast Reconstr Surg DGPW 2014; 3: Doc 13. DOI: 10.3205/iprs000054
27. Strubbe EH, Cremers CW, Willemsen WN et al. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphology 1994; 3 (3):192–9.
28. Вербенко А.А., Шахматова М.П. Аплазия влагалища. М.: Медицина, 1982. / Verbenko A.A., SHahmatova M.P. Aplaziya vlagalishcha. M.: Medicina, 1982. [in Russian]
29. Fisher K, Esham RH, Thorneycroft I. Scolios is associated with typical l Mayer-Rokitansky–Küster–Hausersyndrome. Southern Med J 2000; 93 (2): 243–6.
30. Мартыш Н.С. Клинико-эхографические аспекты нарушений полового развития и аномалий развития матки и влагалища у девочек. Автореф. дис. … д-ра мед. наук. М., 1996. / Martysh N.S. Kliniko-ehkhograficheskie aspekty narushenij polovogo razvitiya i anomalij razvitiya matki i vlagalishcha u devochek. Avtoref. dis. … d-ra med. nauk. M., 1996. [in Russian]
31. Reichman DE, Laufer MR. Congenital uterine anomalies affecting reproduction. Best Pract Res Clin Obstet Gynaecol 2010; 24 (2): 193–208.
32. Nodale C, Ceccarelli S, Giuliano M et al. Gene expression profile of patients with Mayer–Rokitansky–Küster–Hauser syndrome: new insights into the potential role of developmental pathways. PloS One 2014; 9 (3): e91010.
33. Sultan C, Biason-Lauber A, Philibert P. Mayer–Rokitansky–Küster–Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol 2009; 25 (1): 8–11.
34. Bombard DS, Mousa SA. Mayer–Rokitansky–Küster–Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol 2014; 30 (9): 618–23.
35. Bernardini L, Gimelli S, Gervasini C et al. Recurrent microdeletion at 17q12 as a cause of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 2009; 4 (1): article 25.
36. Acien P, Acien M, and Sanchez-Ferrer M. Complex malformations of the female genital tract: new types and revision of classification. Hum Reprod 2004; 19 (10): 2377–84.
37. Drummond JB., Reis FM., Boson WL et al. Molecular analysis of the WNT4 gene in 6 patients with Mayer–Rokitansky–Küster–Hauser syndrome. Fertility and Sterility 2008; 90 (3): 857–9.
38. Ekici AB, Strissel PL, Oppelt PG et al. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene 2013; 518 (2): 267–72.
39. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analysis of the anti-Mullerianhormone,the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyltransferase genes in patients with the Mayer–Rokitnasky–Küster–Hauser syndrome. Arch Gynecol Obstetr 2004; 269 (4): 270–3.
40. Rizzo A, Lagana AS, Sturlese E et al. Mayer–Rokitansky–Küster–Hauser syndrome: Embryology, Genetics and Climnical and Surginal Treatment. ISRN Obstetr Gynecol 2013; ID 628717: 10.
2. Uvarova E.V. Detskaya i podrostkovaya ginekologiya. Rukovodstvo dlya vrachej. M.: Litterra, 2009. [in Russian]
3. Sadler TW. Longman’s Medical Embryology. Williams&Wilkins USA, 2000.
4. Adamyan L.V., Kulakov V.I., Hashukoeva A.Z. Poroki razvitiya matki i vlagalishcha. M.: Medicina, 1998. [in Russian]
5. Spencer JW, Hayashi K, Hu J, Cerpenter KD. Comparative developmental biology of the mammalian uterus. Curr Top Dev Biol 2005; 68: 8–122.
6. Grimbizis GF, Gordts S, Spiezio Di et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod 2013; 28 (8): 2032–44. DOI: 10.1093/humrep/det098
7. Alimbaeva G.N. Sil'nye i slabye storony klassifikacij porokov razvitiya myullerovyh proizvodnyh. Reproduktivnoe zdorov'e detej i podrostkov. 2014; 5: 22–9. [in Russian]
8. Adamyan L.V., Bogdanova E.A. Operativnaya ginekologiya detej i podrostkov. M.:EHliksKos, 2004. [in Russian]
9. Mayer CAJ (1829). Über Verdoppelungen des Uterus und ihre Arten, nebst Bemerkungen über Hasenscharte und Wolfsrachen. J Chir Auger 1829; 13: 525–65.
10. Arnold BW, Gilfeather M, Woodward PJ. Mullerian duct anomalies complicated by obstruction: evaluation with pelvic magnetic resonance imaging. J Womens imaging 2001; 3: 146–52.
11. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part I: morphology. Arch Gyn Obstetr 1998; 262 (1–2): 1–26.
12. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part II: embryology. Arch Gyn Obstetr 1998; 262 (1–2): 27–42.
13. Strizhakova M.A. Poroki razvitiya vlagalishcha i matki u devochek (klinicheskaya lekciya). Reproduktivnoe zdorov'e detej i podrostkov. 2005; 3: 39–44. [in Russian]
14. Kiseleva I.A. Formirovanie pola cheloveka. Reproduktivnoe zdorov'e detej i podrostkov. 2005; 4: 48–58. [in Russian]
15. Adamyan L.V, Kurilo L.F., Glybina T.M. i dr. Anomalii zhenskoj reproduktivnoj sistemy: novyj vzglyad na ehtiologiyu, ehmbriologiyu i klassifikaciyu. V kn.: Problemy reprodukcii. Sb. tezisov III Mezhdunar. kongr. po reproduktivnoj medicine. Pod. red. G.T.Suhih, L.V.Adamyan. M., 2009. [in Russian]
16. Makiyan Z.N. Varianty operativnogo lecheniya pri anomaliyah polovyh organov. AG-info. 2011; 1: 32–43. [in Russian]
17. Rokitansky K (1838) Über die sogenannten Verdoppelungen des Uterus. Med Jahrb Ost Staat 1838; 26: 39–77.
18. Küster H (1910) Uterus bipartitus solidus rudimentarius cum vagina solida. Z Geb Gyn 1910; 67: 692.
19. Hauser GA, Schreiner WE. Mayer–Rokitansky–Küster syndrome: rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr 1961; 91: 381–4.
20. McQuillan SK, Grover SR. Dilation and surgical management in vaginal agenesis: a systematic review. Int Urogynecol J 2013; 25 (3): 299–311.
21. Khoder WY, Stief CG, Burgmann M et al. Laparoscopic reconstruction of an iatrogenic perforation of the neovagina and urinary bladder by a neovaginal dilator in a patient with Mayer–Rokitansky–Küster–Hauser syndrome. Int Urogynecol J 2015; 26: 1083–7.
22. Morcel K, Guerrier D, Watrin T et al. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: clinical description and genetics. J Gyn Obstetr Biol Reprod 2008; 37 (6): 539–46.
23. Torres-de la Roche LA, Devassy R et al. Plastic neo-vaginal construction in Mayer–Rokitansky–Küster–Hauser syndrome: an expert opinion paper on the decision-making treatment process. GMS Interdiscip Plast Reconstr Surg DGPW 2016; 5: 1–5.
24. Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer–Rokitansky–Küster–Hauser syndrome (congenital absence of uterus and vagina) – Phenotypic manifestations and genetic approaches. J Neg Res BioMedicine 2006; 5 (1).
25. Oppelt P, Renner SP, Kellermann A et al. Clinical aspects of Mayer–Rokitansky–Küester–Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod 2006; 21(3): 792–7.
26. Cezar C, Devassy R, Larbig A, De Wilde RL. Efficacy risks of the minimal-invasive plastic and reconstructive neovagina Vecchietti technique in Mayer–Rokitansky–Küster–Hauser syndrome. GMS Interdiscip Plast Reconstr Surg DGPW 2014; 3: Doc 13. DOI: 10.3205/iprs000054
27. Strubbe EH, Cremers CW, Willemsen WN et al. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphology 1994; 3 (3):192–9.
28. Вербенко А.А., Шахматова М.П. Аплазия влагалища. М.: Медицина, 1982. / Verbenko A.A., SHahmatova M.P. Aplaziya vlagalishcha. M.: Medicina, 1982. [in Russian]
29. Fisher K, Esham RH, Thorneycroft I. Scolios is associated with typical l Mayer-Rokitansky–Küster–Hausersyndrome. Southern Med J 2000; 93 (2): 243–6.
30. Martysh N.S. Kliniko-ehkhograficheskie aspekty narushenij polovogo razvitiya i anomalij razvitiya matki i vlagalishcha u devochek. Avtoref. dis. … d-ra med. nauk. M., 1996. [in Russian]
31. Reichman DE, Laufer MR. Congenital uterine anomalies affecting reproduction. Best Pract Res Clin Obstet Gynaecol 2010; 24 (2): 193–208.
32. Nodale C, Ceccarelli S, Giuliano M et al. Gene expression profile of patients with Mayer–Rokitansky–Küster–Hauser syndrome: new insights into the potential role of developmental pathways. PloS One 2014; 9 (3): e91010.
33. Sultan C, Biason-Lauber A, Philibert P. Mayer–Rokitansky–Küster–Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol 2009; 25 (1): 8–11.
34. Bombard DS, Mousa SA. Mayer–Rokitansky–Küster–Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol 2014; 30 (9): 618–23.
35. Bernardini L, Gimelli S, Gervasini C et al. Recurrent microdeletion at 17q12 as a cause of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 2009; 4 (1): article 25.
36. Acien P, Acien M, and Sanchez-Ferrer M. Complex malformations of the female genital tract: new types and revision of classification. Hum Reprod 2004; 19 (10): 2377–84.
37. Drummond JB., Reis FM., Boson WL et al. Molecular analysis of the WNT4 gene in 6 patients with Mayer–Rokitansky–Küster–Hauser syndrome. Fertility and Sterility 2008; 90 (3): 857–9.
38. Ekici AB, Strissel PL, Oppelt PG et al. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene 2013; 518 (2): 267–72.
39. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analysis of the anti-Mullerianhormone,the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyltransferase genes in patients with the Mayer–Rokitnasky–Küster–Hauser syndrome. Arch Gynecol Obstetr 2004; 269 (4): 270–3.
40. Rizzo A, Lagana AS, Sturlese E et al. Mayer–Rokitansky–Küster–Hauser syndrome: Embryology, Genetics and Climnical and Surginal Treatment. ISRN Obstetr Gynecol 2013; ID 628717: 10.
2. Уварова Е.В. Детская и подростковая гинекология. Руководство для врачей. М.: Литтерра, 2009. / Uvarova E.V. Detskaya i podrostkovaya ginekologiya. Rukovodstvo dlya vrachej. M.: Litterra, 2009. [in Russian]
3. Sadler TW. Longman’s Medical Embryology. Williams&Wilkins USA, 2000.
4. Адамян Л.В., Кулаков В.И., Хашукоева А.З. Пороки развития матки и влагалища. М.: Медицина, 1998. / Adamyan L.V., Kulakov V.I., Hashukoeva A.Z. Poroki razvitiya matki i vlagalishcha. M.: Medicina, 1998. [in Russian]
5. Spencer JW, Hayashi K, Hu J, Cerpenter KD. Comparative developmental biology of the mammalian uterus. Curr Top Dev Biol 2005; 68: 8–122.
6. Grimbizis GF, Gordts S, Spiezio Di et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod 2013; 28 (8): 2032–44. DOI: 10.1093/humrep/det098
7. Алимбаева Г.Н. Сильные и слабые стороны классификаций пороков развития мюллеровых производных. Репродуктивное здоровье детей и подростков. 2014; 5: 22–9. / Alimbaeva G.N. Sil'nye i slabye storony klassifikacij porokov razvitiya myullerovyh proizvodnyh. Reproduktivnoe zdorov'e detej i podrostkov. 2014; 5: 22–9. [in Russian]
8. Адамян Л.В., Богданова Е.А. Оперативная гинекология детей и подростков. М.:ЭликсКос, 2004. / Adamyan L.V., Bogdanova E.A. Operativnaya ginekologiya detej i podrostkov. M.:EHliksKos, 2004. [in Russian]
9. Mayer CAJ (1829). Über Verdoppelungen des Uterus und ihre Arten, nebst Bemerkungen über Hasenscharte und Wolfsrachen. J Chir Auger 1829; 13: 525–65.
10. Arnold BW, Gilfeather M, Woodward PJ. Mullerian duct anomalies complicated by obstruction: evaluation with pelvic magnetic resonance imaging. J Womens imaging 2001; 3: 146–52.
11. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part I: morphology. Arch Gyn Obstetr 1998; 262 (1–2): 1–26.
12. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part II: embryology. Arch Gyn Obstetr 1998; 262 (1–2): 27–42.
13. Стрижакова М.А. Пороки развития влагалища и матки у девочек (клиническая лекция). Репродуктивное здоровье детей и подростков. 2005; 3: 39–44. / Strizhakova M.A. Poroki razvitiya vlagalishcha i matki u devochek (klinicheskaya lekciya). Reproduktivnoe zdorov'e detej i podrostkov. 2005; 3: 39–44. [in Russian]
14. Киселева И.А. Формирование пола человека. Репродуктивное здоровье детей и подростков. 2005; 4: 48–58. / Kiseleva I.A. Formirovanie pola cheloveka. Reproduktivnoe zdorov'e detej i podrostkov. 2005; 4: 48–58. [in Russian]
15. Адамян Л.В, Курило Л.Ф., Глыбина Т.М. и др. Аномалии женской репродуктивной системы: новый взгляд на этиологию, эмбриологию и классификацию. В кн.: Проблемы репродукции. Сб. тезисов III Междунар. конгр. по репродуктивной медицине. Под. ред. Г.Т.Сухих, Л.В.Адамян. М., 2009. / Adamyan L.V, Kurilo L.F., Glybina T.M. i dr. Anomalii zhenskoj reproduktivnoj sistemy: novyj vzglyad na ehtiologiyu, ehmbriologiyu i klassifikaciyu. V kn.: Problemy reprodukcii. Sb. tezisov III Mezhdunar. kongr. po reproduktivnoj medicine. Pod. red. G.T.Suhih, L.V.Adamyan. M., 2009. [in Russian]
16. Макиян З.Н. Варианты оперативного лечения при аномалиях половых органов. АГ-инфо. 2011; 1: 32–43. / Makiyan Z.N. Varianty operativnogo lecheniya pri anomaliyah polovyh organov. AG-info. 2011; 1: 32–43. [in Russian]
17. Rokitansky K (1838) Über die sogenannten Verdoppelungen des Uterus. Med Jahrb Ost Staat 1838; 26: 39–77.
18. Küster H (1910) Uterus bipartitus solidus rudimentarius cum vagina solida. Z Geb Gyn 1910; 67: 692.
19. Hauser GA, Schreiner WE. Mayer–Rokitansky–Küster syndrome: rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr 1961; 91: 381–4.
20. McQuillan SK, Grover SR. Dilation and surgical management in vaginal agenesis: a systematic review. Int Urogynecol J 2013; 25 (3): 299–311.
21. Khoder WY, Stief CG, Burgmann M et al. Laparoscopic reconstruction of an iatrogenic perforation of the neovagina and urinary bladder by a neovaginal dilator in a patient with Mayer–Rokitansky–Küster–Hauser syndrome. Int Urogynecol J 2015; 26: 1083–7.
22. Morcel K, Guerrier D, Watrin T et al. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: clinical description and genetics. J Gyn Obstetr Biol Reprod 2008; 37 (6): 539–46.
23. Torres-de la Roche LA, Devassy R et al. Plastic neo-vaginal construction in Mayer–Rokitansky–Küster–Hauser syndrome: an expert opinion paper on the decision-making treatment process. GMS Interdiscip Plast Reconstr Surg DGPW 2016; 5: 1–5.
24. Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer–Rokitansky–Küster–Hauser syndrome (congenital absence of uterus and vagina) – Phenotypic manifestations and genetic approaches. J Neg Res BioMedicine 2006; 5 (1).
25. Oppelt P, Renner SP, Kellermann A et al. Clinical aspects of Mayer–Rokitansky–Küester–Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod 2006; 21(3): 792–7.
26. Cezar C, Devassy R, Larbig A, De Wilde RL. Efficacy risks of the minimal-invasive plastic and reconstructive neovagina Vecchietti technique in Mayer–Rokitansky–Küster–Hauser syndrome. GMS Interdiscip Plast Reconstr Surg DGPW 2014; 3: Doc 13. DOI: 10.3205/iprs000054
27. Strubbe EH, Cremers CW, Willemsen WN et al. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphology 1994; 3 (3):192–9.
28. Вербенко А.А., Шахматова М.П. Аплазия влагалища. М.: Медицина, 1982. / Verbenko A.A., SHahmatova M.P. Aplaziya vlagalishcha. M.: Medicina, 1982. [in Russian]
29. Fisher K, Esham RH, Thorneycroft I. Scolios is associated with typical l Mayer-Rokitansky–Küster–Hausersyndrome. Southern Med J 2000; 93 (2): 243–6.
30. Мартыш Н.С. Клинико-эхографические аспекты нарушений полового развития и аномалий развития матки и влагалища у девочек. Автореф. дис. … д-ра мед. наук. М., 1996. / Martysh N.S. Kliniko-ehkhograficheskie aspekty narushenij polovogo razvitiya i anomalij razvitiya matki i vlagalishcha u devochek. Avtoref. dis. … d-ra med. nauk. M., 1996. [in Russian]
31. Reichman DE, Laufer MR. Congenital uterine anomalies affecting reproduction. Best Pract Res Clin Obstet Gynaecol 2010; 24 (2): 193–208.
32. Nodale C, Ceccarelli S, Giuliano M et al. Gene expression profile of patients with Mayer–Rokitansky–Küster–Hauser syndrome: new insights into the potential role of developmental pathways. PloS One 2014; 9 (3): e91010.
33. Sultan C, Biason-Lauber A, Philibert P. Mayer–Rokitansky–Küster–Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol 2009; 25 (1): 8–11.
34. Bombard DS, Mousa SA. Mayer–Rokitansky–Küster–Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol 2014; 30 (9): 618–23.
35. Bernardini L, Gimelli S, Gervasini C et al. Recurrent microdeletion at 17q12 as a cause of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 2009; 4 (1): article 25.
36. Acien P, Acien M, and Sanchez-Ferrer M. Complex malformations of the female genital tract: new types and revision of classification. Hum Reprod 2004; 19 (10): 2377–84.
37. Drummond JB., Reis FM., Boson WL et al. Molecular analysis of the WNT4 gene in 6 patients with Mayer–Rokitansky–Küster–Hauser syndrome. Fertility and Sterility 2008; 90 (3): 857–9.
38. Ekici AB, Strissel PL, Oppelt PG et al. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene 2013; 518 (2): 267–72.
39. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analysis of the anti-Mullerianhormone,the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyltransferase genes in patients with the Mayer–Rokitnasky–Küster–Hauser syndrome. Arch Gynecol Obstetr 2004; 269 (4): 270–3.
40. Rizzo A, Lagana AS, Sturlese E et al. Mayer–Rokitansky–Küster–Hauser syndrome: Embryology, Genetics and Climnical and Surginal Treatment. ISRN Obstetr Gynecol 2013; ID 628717: 10.
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2. Uvarova E.V. Detskaya i podrostkovaya ginekologiya. Rukovodstvo dlya vrachej. M.: Litterra, 2009. [in Russian]
3. Sadler TW. Longman’s Medical Embryology. Williams&Wilkins USA, 2000.
4. Adamyan L.V., Kulakov V.I., Hashukoeva A.Z. Poroki razvitiya matki i vlagalishcha. M.: Medicina, 1998. [in Russian]
5. Spencer JW, Hayashi K, Hu J, Cerpenter KD. Comparative developmental biology of the mammalian uterus. Curr Top Dev Biol 2005; 68: 8–122.
6. Grimbizis GF, Gordts S, Spiezio Di et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod 2013; 28 (8): 2032–44. DOI: 10.1093/humrep/det098
7. Alimbaeva G.N. Sil'nye i slabye storony klassifikacij porokov razvitiya myullerovyh proizvodnyh. Reproduktivnoe zdorov'e detej i podrostkov. 2014; 5: 22–9. [in Russian]
8. Adamyan L.V., Bogdanova E.A. Operativnaya ginekologiya detej i podrostkov. M.:EHliksKos, 2004. [in Russian]
9. Mayer CAJ (1829). Über Verdoppelungen des Uterus und ihre Arten, nebst Bemerkungen über Hasenscharte und Wolfsrachen. J Chir Auger 1829; 13: 525–65.
10. Arnold BW, Gilfeather M, Woodward PJ. Mullerian duct anomalies complicated by obstruction: evaluation with pelvic magnetic resonance imaging. J Womens imaging 2001; 3: 146–52.
11. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part I: morphology. Arch Gyn Obstetr 1998; 262 (1–2): 1–26.
12. Ludwig KS. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part II: embryology. Arch Gyn Obstetr 1998; 262 (1–2): 27–42.
13. Strizhakova M.A. Poroki razvitiya vlagalishcha i matki u devochek (klinicheskaya lekciya). Reproduktivnoe zdorov'e detej i podrostkov. 2005; 3: 39–44. [in Russian]
14. Kiseleva I.A. Formirovanie pola cheloveka. Reproduktivnoe zdorov'e detej i podrostkov. 2005; 4: 48–58. [in Russian]
15. Adamyan L.V, Kurilo L.F., Glybina T.M. i dr. Anomalii zhenskoj reproduktivnoj sistemy: novyj vzglyad na ehtiologiyu, ehmbriologiyu i klassifikaciyu. V kn.: Problemy reprodukcii. Sb. tezisov III Mezhdunar. kongr. po reproduktivnoj medicine. Pod. red. G.T.Suhih, L.V.Adamyan. M., 2009. [in Russian]
16. Makiyan Z.N. Varianty operativnogo lecheniya pri anomaliyah polovyh organov. AG-info. 2011; 1: 32–43. [in Russian]
17. Rokitansky K (1838) Über die sogenannten Verdoppelungen des Uterus. Med Jahrb Ost Staat 1838; 26: 39–77.
18. Küster H (1910) Uterus bipartitus solidus rudimentarius cum vagina solida. Z Geb Gyn 1910; 67: 692.
19. Hauser GA, Schreiner WE. Mayer–Rokitansky–Küster syndrome: rudimentary solid bipartite uterus with solid vagina. Schweiz Med Wochenschr 1961; 91: 381–4.
20. McQuillan SK, Grover SR. Dilation and surgical management in vaginal agenesis: a systematic review. Int Urogynecol J 2013; 25 (3): 299–311.
21. Khoder WY, Stief CG, Burgmann M et al. Laparoscopic reconstruction of an iatrogenic perforation of the neovagina and urinary bladder by a neovaginal dilator in a patient with Mayer–Rokitansky–Küster–Hauser syndrome. Int Urogynecol J 2015; 26: 1083–7.
22. Morcel K, Guerrier D, Watrin T et al. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: clinical description and genetics. J Gyn Obstetr Biol Reprod 2008; 37 (6): 539–46.
23. Torres-de la Roche LA, Devassy R et al. Plastic neo-vaginal construction in Mayer–Rokitansky–Küster–Hauser syndrome: an expert opinion paper on the decision-making treatment process. GMS Interdiscip Plast Reconstr Surg DGPW 2016; 5: 1–5.
24. Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer–Rokitansky–Küster–Hauser syndrome (congenital absence of uterus and vagina) – Phenotypic manifestations and genetic approaches. J Neg Res BioMedicine 2006; 5 (1).
25. Oppelt P, Renner SP, Kellermann A et al. Clinical aspects of Mayer–Rokitansky–Küester–Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod 2006; 21(3): 792–7.
26. Cezar C, Devassy R, Larbig A, De Wilde RL. Efficacy risks of the minimal-invasive plastic and reconstructive neovagina Vecchietti technique in Mayer–Rokitansky–Küster–Hauser syndrome. GMS Interdiscip Plast Reconstr Surg DGPW 2014; 3: Doc 13. DOI: 10.3205/iprs000054
27. Strubbe EH, Cremers CW, Willemsen WN et al. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphology 1994; 3 (3):192–9.
28. Вербенко А.А., Шахматова М.П. Аплазия влагалища. М.: Медицина, 1982. / Verbenko A.A., SHahmatova M.P. Aplaziya vlagalishcha. M.: Medicina, 1982. [in Russian]
29. Fisher K, Esham RH, Thorneycroft I. Scolios is associated with typical l Mayer-Rokitansky–Küster–Hausersyndrome. Southern Med J 2000; 93 (2): 243–6.
30. Martysh N.S. Kliniko-ehkhograficheskie aspekty narushenij polovogo razvitiya i anomalij razvitiya matki i vlagalishcha u devochek. Avtoref. dis. … d-ra med. nauk. M., 1996. [in Russian]
31. Reichman DE, Laufer MR. Congenital uterine anomalies affecting reproduction. Best Pract Res Clin Obstet Gynaecol 2010; 24 (2): 193–208.
32. Nodale C, Ceccarelli S, Giuliano M et al. Gene expression profile of patients with Mayer–Rokitansky–Küster–Hauser syndrome: new insights into the potential role of developmental pathways. PloS One 2014; 9 (3): e91010.
33. Sultan C, Biason-Lauber A, Philibert P. Mayer–Rokitansky–Küster–Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol 2009; 25 (1): 8–11.
34. Bombard DS, Mousa SA. Mayer–Rokitansky–Küster–Hauser syndrome: complications, diagnosis and possible treatment options: a review. Gynecol Endocrinol 2014; 30 (9): 618–23.
35. Bernardini L, Gimelli S, Gervasini C et al. Recurrent microdeletion at 17q12 as a cause of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 2009; 4 (1): article 25.
36. Acien P, Acien M, and Sanchez-Ferrer M. Complex malformations of the female genital tract: new types and revision of classification. Hum Reprod 2004; 19 (10): 2377–84.
37. Drummond JB., Reis FM., Boson WL et al. Molecular analysis of the WNT4 gene in 6 patients with Mayer–Rokitansky–Küster–Hauser syndrome. Fertility and Sterility 2008; 90 (3): 857–9.
38. Ekici AB, Strissel PL, Oppelt PG et al. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene 2013; 518 (2): 267–72.
39. Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. Molecular analysis of the anti-Mullerianhormone,the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyltransferase genes in patients with the Mayer–Rokitnasky–Küster–Hauser syndrome. Arch Gynecol Obstetr 2004; 269 (4): 270–3.
40. Rizzo A, Lagana AS, Sturlese E et al. Mayer–Rokitansky–Küster–Hauser syndrome: Embryology, Genetics and Climnical and Surginal Treatment. ISRN Obstetr Gynecol 2013; ID 628717: 10.
Авторы
Д.А.Кругляк*, Н.А.Буралкина, М.В.Ипатова, З.К.Батырова, Е.В.Уварова
ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И.Кулакова» Минздрава России. 117997, Россия, Москва, ул. Академика Опарина, д. 4
*diana.kruglyak@yandex.ru
V.I.Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Akademika Oparina, d. 4
*diana.kruglyak@yandex.ru
ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И.Кулакова» Минздрава России. 117997, Россия, Москва, ул. Академика Опарина, д. 4
*diana.kruglyak@yandex.ru
________________________________________________
V.I.Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Akademika Oparina, d. 4
*diana.kruglyak@yandex.ru
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