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Müllerian agenesis

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210:, which contributes to the complexity involved in identifying the underlying causal mechanisms. Because of the variance in inheritance, penetrance and expressivity patterns, Müllerian agenesis is subdivided into two types: type 1, in which only the structures developing from the Müllerian duct are affected (the upper vagina, cervix, and uterus), and type 2, wherein the same structures are affected, but other body systems, most often the renal and skeletal systems, have additional malformations. Type 2 includes MURCS (Müllerian Renal Cervical Somite). 66: 485:. There, the threads are attached to a traction device. The traction device is then tightened daily so the “olive” is pulled inwards and stretches the vagina by approximately 1 cm per day, creating a vagina approximately 7 cm deep in 7 days. The operation takes approximately 45 minutes. Another approach is the use of an 527:
to give birth to a healthy baby. The mother was born without a uterus, but had functioning ovaries. She and the father used IVF to produce 11 embryos, which were then frozen. Doctors at the University of Gothenburg then performed the uterus transplant, the donor being a 61-year-old family friend. One
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The majority of Müllerian agenesis cases are characterized as sporadic, but familial cases have provided evidence that, at least for some patients, it is an inherited disorder. The underlying causes are still being investigated, but several causative genes have been studied for their possible
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has been shown to result in a vagina that is comparable to a typical vagina. In the Vecchietti procedure, a small plastic “olive” is threaded against the vaginal area, and the threads are drawn through the vaginal skin, up through the abdomen and navel using
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may have had the syndrome, but a 2011 review of the historical evidence concludes that it is not possible to determine the inability of her and her husband to have a child. Their inability to conceive an heir contributed to the overthrow of the king
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Gatti M, Tolva G, Bergamaschi S, Giavoli C, Esposito S, Marchisio P, Milani D (October 2018). "Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature".
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Raya-Rivera AM, Esquiliano D, Fierro-Pastrana R, López-Bayghen E, Valencia P, Ordorica-Flores R, Soker S, Yoo JJ, Atala A (July 2014). "Tissue-engineered autologous vaginal organs in patients: a pilot cohort study".
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The prevalence remains sparsely investigated. To date, two population-based nationwide studies have been conducted both estimating a prevalence about 1 in 5,000 live female births. According to some reports,
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Promising research includes the use of laboratory-grown structures, which are less subject to the complications of non-vaginal tissue, and may be grown using the woman's own cells as a culture source.
684: 349:. In addition, it removes the inhibition of steroidogenic enzymes like 3β-hydroxysteriod dehydrogenase and 17α-hydroxylase. Patients therefore have androgen excess. Furthermore, without 294:. Successful uterine transplant has been performed in limited numbers of patients, resulting in several live births, but the technique is not widespread or accessible to many women. 2520: 2505: 1243: 457:
A number of treatments have become available to create a functioning vagina. Standard approaches use vaginal dilators and/or surgery to develop a functioning vagina to allow for
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Ozkan O, Akar ME, Ozkan O, Erdogan O, Hadimioglu N, Yilmaz M, Gunseren F, Cincik M, Pestereli E, Kocak H, Mutlu D, Dinckan A, Gecici O, Bektas G, Suleymanlar G (February 2013).
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Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P (2012) Frame shift mutation of LHX1 is associated with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Hum Reprod
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A 2014 study and experiment with laboratory-grown engineered vaginas using the patient's own cells resulted in fully functional vaginas capable of menstruation, sustaining
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Brännström, Mats; Racowsky, Catherine; Richards, Elliott G.; Flyckt, Rebecca; Stillman, Robert J.; O’Brien, Jeanne E.; Ryan, Ginny L.; de Ziegler, Dominique (June 2023).
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If there is no uterus, a woman with Müllerian agenesis cannot carry a pregnancy without intervention. It is possible for the woman to have genetic offspring by
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have been implicated in causing MRKH syndrome. The typical and atypical forms of the disorder are presumably caused by mutations in different genes.
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Patnaik SS, Brazile B, Dandolu V, Ryan PL, Liao J (January 2015). "Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: a historical perspective".
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of the frozen embryos was implanted a year after the transplant, and the baby boy was born prematurely at 31 weeks after the mother developed
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A woman with Müllerian agenesis typically discovers the condition when, during puberty years, the menstrual cycle does not start (primary
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Sultan C, Biason-Lauber A, Philibert P (January 2009). "Mayer–Rokitansky–Kuster–Hauser syndrome: recent clinical and genetic findings".
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Raya-Rivera AM, Esquiliano D, Fierro-Pastrana R, López-Bayghen E, Valencia P, Ordorica-Flores R, Soker S, Yoo JJ, Atala A (July 2014).
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Kyei Barffour I, Kyei Baah Kwarkoh R (March 2021). "GREB1L as a candidate gene of Mayer–Rokitansky–Küster–Hauser Syndrome".
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has been performed in a number of people with Müllerian agenesis, but the surgery is still in the experimental stage. Since
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association with the syndrome. Most of these studies have served to rule-out genes as causative factors, but thus far, only
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using laparoscopic surgery; results are reported to be very good, with the transplant becoming a functional vagina.
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In October 2014, it was reported that a month earlier a 36-year-old Swedish woman became the first woman with a
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is shortened and intercourse may, in some cases, be difficult and painful. Medical examination supported by
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As of 2023 more than 100 womb transplants have taken place with around 50 babies have been born worldwide
524: 287: 188: 2475: 2352: 2316: 664: 596: 373: 17: 2480: 2347: 2175: 1576: 1204:"A new laparoscopic procedure for creation of a neovagina in Mayer–Rokitansky–Kuster–Hauser syndrome" 482: 477: 354: 334: 140: 1912: 337:) has been clearly implicated in the atypical version of this disorder. A genetic mutation causes a 2067: 631: 567: 512: 345:
residue substitution at amino acid position 12. This occurrence reduces the intranuclear levels of
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due to the lack of a functional uterus. However, biological motherhood is possible through
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American College of Obstetricians and Gynecologists, Müllerian Agenesis: Resource Overview
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Reports of Müllerian agenesis can be traced back to Hippocrates (460 B.C.–377 B.C.). The
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Woten M. "Quick Lesson: Mayer–Rokitansky–Kuster–Hauser Syndrome". In Cinahl DP (ed.).
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A female with this condition is hormonally normal; that is, the woman will enter
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is either deformed or absent. Female reproductive organs, such as the cervix,
239:(1804–1878), Hermann Küster (1879–1964) and Georges Andre Hauser (1921–2009). 203: 83: 1888:"Why This Woman Is Proud to Be Known as "The Pageant Queen Without a Uterus"" 2444: 1708: 1691: 291: 264: 256: 192: 184: 1975: 1956: 1805: 1761: 1752: 1735: 1717: 1676: 1651:"A population-based study of the incidence of Müllerian aplasia in Finland" 1627: 1541: 1473: 1459: 1407: 1324: 1119: 1071: 1027: 992: 943: 863: 774: 382:
is located in this region and may be the cause of a number of these cases.
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The etiology of Müllerian agenesis in many cases remains elusive. However,
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do not develop from the Müllerian ducts, affected people might have normal
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of its upper portion. Müllerian agenesis (including absence of the uterus,
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are present, people with this condition can have genetic children through
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Varner RE, Younger JB, Blackwell RE (June 1985). "Müllerian dysgenesis".
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with renal malformation, skeletal malformation, and cardiac malformation
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Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M (February 2017).
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Herlin M, Bjørn AM, Rasmussen M, Trolle B, Petersen MB (October 2016).
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Poulakou-Rebelakou E, Tsiamis C, Tompros N, Creatsas G (March 2011).
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Fedele L, Bianchi S, Tozzi L, Borruto F, Vignali M (November 1996).
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Goldwyn RM (March 1977). "History of attempts to form a vagina".
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The Journal of the Royal College of Physicians of Edinburgh
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about her experiences being diagnosed with the condition
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A number of surgical approaches have been used. In the
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Müllerian agenesis is hypothesized to be a result of
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Congenital malformation of female reproductive organs
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Aittomäki K, Eroila H, Kajanoja P (September 2001).
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Herlin MK, Petersen MB, Brännström M (August 2020).
2458: 2410: 2403: 2383: 2365: 2330: 2307: 2274: 2265: 2222: 2174: 2167: 2029: 396:Typical Müllerian agenesis – Isolated uterovaginal 106: 89: 77: 42: 37: 275:demonstrates a complete or partial absence of the 2155:congenital anomalies of the genitalia, including 1938:Morcel K, Camborieux L, Guerrier D (March 2007). 1849:, Australian Broadcasting Corporation, 2015-09-28 1777:"Coming out as a male scientist in a man's world" 220:has been associated with Müllerian agenesis with 1940:"Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome" 1499:"Laboratory-grown vaginas implanted in patients" 1142:"WNT4 Müllerian aplasia and ovarian dysfunction" 879:"Uterus transplants: My sister gave me her womb" 609:, Canadian film director who made the 2023 film 1729: 1727: 837: 835: 48:Rokitansky–Küster–Hauser syndrome (RKH or RKHS) 901: 899: 361:, and much of the vagina, are hence affected. 51:Müller–Mayer–Rokitansky–Küster–Hauser syndrome 2521:Congenital malformations of uterus and cervix 2506:Congenital disorders of female genital organs 2133: 8: 593:, Australian intersex activist and musician 411:Atypical Müllerian agenesis – Uterovaginal 2407: 2271: 2171: 2140: 2126: 2118: 2026: 159:) is the cause in 15% of cases of primary 64: 34: 1965: 1955: 1795: 1751: 1707: 1666: 1449: 1355: 1314: 1219: 1144:. Genetics Home Reference. Archived from 982: 933: 923: 764: 1920:Royal college of physicians of Edinburgh 1093: 1091: 1089: 419:with renal malformation or uterovaginal 676: 129:Mayer–Rokitansky–Küster–Hauser syndrome 73:A patient displaying Müllerian agenesis 18:Mayer–Rokitansky–Küster–Hauser syndrome 2375:Congenital absence of the vas deferens 1338:Akhter N, Begum B (3 February 2013). 1177:Attualita di Ostetricia e Ginecologia 468:, a skin graft is applied to form an 7: 1985:The Journal of Reproductive Medicine 2012:Online Mendelian Inheritance in Man 1821:"I am intersex: Shon Klose's story" 143:to develop, resulting in a missing 2391:Persistent Müllerian duct syndrome 798:Plastic and Reconstructive Surgery 139:characterized by a failure of the 25: 1944:Orphanet Journal of Rare Diseases 1408:"First womb-transplant baby born" 1379:Saint Mary's Hospital, Manchester 1344:Bangladesh Medical Journal Khulna 1451:10.1016/j.fertnstert.2023.04.005 1316:10.1016/j.fertnstert.2012.09.035 810:10.1097/00006534-197703000-00002 253:secondary sexual characteristics 181:secondary sexual characteristics 267:usually occurs. Typically, the 2471:Progestin-induced virilization 579:People with Müllerian agenesis 459:penetrative sexual intercourse 435:MURCS syndrome – Uterovaginal 376:, has been reported. The gene 1: 1668:10.1016/s0015-0282(01)01963-x 1620:10.1016/S0140-6736(14)60542-0 1589:10.1016/S0262-4079(14)60758-2 1534:10.1016/S0140-6736(14)60542-0 1221:10.1016/S0015-0282(16)58653-1 515:. Some also choose to adopt. 368:, a deletion mutation in the 233:August Franz Josef Karl Mayer 1797:10.1016/j.neuron.2013.10.005 957:Ledig S, Wieacker P (2018). 587:, transgender male scientist 366:17q12 microdeletion syndrome 237:Carl Freiherr von Rokitansky 202:inheritance with incomplete 2322:Unilateral ovarian agenesis 1819:sleath, emma (2014-12-03). 1563:Catherine de Lange (2014). 1100:Gynecological Endocrinology 273:gynecologic ultrasonography 2542: 2299:Sertoli cell-only syndrome 1357:10.3329/bmjk.v45i1-2.13626 1064:10.1016/j.jpag.2018.04.003 1020:10.1016/j.ejmg.2021.104158 925:10.1186/s13023-020-01491-9 856:10.1016/j.gene.2014.09.045 599:, medical sociologist and 542: 317:in a variety of different 2450:Penoscrotal transposition 1175:Vecchietti G (1965). "". 1112:10.1080/09513590802288291 1052:J Pediatr Adolesc Gynecol 975:10.1007/s11825-018-0173-7 427:with ovarian dysfunction 259:(breast development) and 72: 63: 2348:Mixed gonadal dysgenesis 1846:One Plus One: Shon Klose 877:Lewis T (10 July 2016). 147:and variable degrees of 99:and variable degrees of 1655:Fertility and Sterility 1438:Fertility and Sterility 1303:Fertility and Sterility 1284:Frauenheilkunde-Aktuell 1208:Fertility and Sterility 539:Laboratory-grown vagina 497:Uterine transplantation 137:congenital malformation 2343:Ovotesticular syndrome 1957:10.1186/1750-1172-2-13 1775:Morgan, Jules (2019). 1753:10.4997/JRCPE.2011.115 1275:Hold MK (2007-01-16). 1244:"Vecchietti Procedure" 710:Welt CK, Barbieri RL. 568:Queen Amalia of Greece 288:in vitro fertilization 191:or use of gestational 189:uterus transplantation 2476:Pseudohermaphroditism 2353:XY gonadal dysgenesis 2317:XX gonadal dysgenesis 1709:10.1093/humrep/dew220 665:Regenerative medicine 597:Esther Morris Leidolf 2511:Pediatric gynecology 2481:True hermaphroditism 2176:Uterine malformation 1877:, September 5, 2023. 483:laparoscopic surgery 478:Vecchietti procedure 364:An association with 251:with development of 2526:Eponyms in medicine 2516:Intersex variations 1581:2014NewSc.222...10D 1388:on 19 February 2017 912:Orphanet J Rare Dis 734:Information Systems 632:Amalia of Oldenburg 525:transplanted uterus 513:gestational carrier 2237:Vaginal hypoplasia 2194:Unicornuate uterus 2184:Müllerian agenesis 1874:The Globe and Mail 1696:Human Reproduction 545:Tissue engineering 243:Signs and symptoms 200:autosomal dominant 149:vaginal hypoplasia 117:Müllerian agenesis 110:1 in 4,500 females 101:vaginal hypoplasia 38:Müllerian agenesis 2493: 2492: 2489: 2488: 2399: 2398: 2361: 2360: 2252:Cloacal exstrophy 2242:Imperforate hymen 2204:Bicornuate uterus 2189:Cervical agenesis 2115: 2114: 1825:ABC Alice Springs 766:10.1111/cge.12883 753:Clinical Genetics 650:Cervical agenesis 645:MURCS association 634:, Queen of Greece 470:artificial vagina 466:McIndoe procedure 167:, along with the 121:Müllerian aplasia 114: 113: 54:Müllerian aplasia 32:Medical condition 16:(Redirected from 2533: 2408: 2338:Gonadal agenesis 2272: 2247:Vaginal adenosis 2199:Uterus didelphys 2172: 2142: 2135: 2128: 2119: 2027: 2000: 1979: 1969: 1959: 1924: 1923: 1917: 1909: 1903: 1902: 1900: 1899: 1884: 1878: 1863: 1857: 1856: 1855: 1854: 1841: 1835: 1834: 1832: 1831: 1816: 1810: 1809: 1799: 1781: 1772: 1766: 1765: 1755: 1731: 1722: 1721: 1711: 1687: 1681: 1680: 1670: 1646: 1640: 1639: 1614:(9940): 329–36. 1599: 1593: 1592: 1560: 1554: 1553: 1528:(9940): 329–36. 1516: 1510: 1509: 1507: 1505: 1495: 1489: 1488: 1486: 1485: 1470: 1464: 1463: 1453: 1429: 1423: 1422: 1420: 1419: 1404: 1398: 1397: 1395: 1393: 1387: 1381:. 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January 2018 675: 674: 672: 669: 668: 667: 662: 657: 652: 647: 640: 637: 636: 635: 627: 624: 623: 622: 619:Jaclyn Schultz 616: 604: 594: 588: 580: 577: 562: 559: 540: 537: 520: 517: 489:of a resected 487:autotransplant 454: 451: 450: 449: 448: 447: 433: 432: 431: 409: 408: 407: 392: 391:Classification 389: 387: 384: 355:Müllerian duct 329:(found on the 310: 307: 283:, and vagina. 244: 241: 229:medical eponym 112: 111: 108: 104: 103: 93: 87: 86: 81: 75: 74: 70: 69: 61: 60: 59: 58: 55: 52: 49: 44: 40: 39: 31: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 2538: 2527: 2524: 2522: 2519: 2517: 2514: 2512: 2509: 2507: 2504: 2503: 2501: 2482: 2479: 2477: 2474: 2472: 2469: 2467: 2466:Clitoromegaly 2464: 2463: 2461: 2457: 2451: 2448: 2446: 2443: 2441: 2438: 2436: 2433: 2431: 2428: 2426: 2423: 2421: 2418: 2417: 2415: 2413: 2409: 2406: 2402: 2392: 2389: 2388: 2386: 2382: 2376: 2373: 2372: 2370: 2368: 2364: 2354: 2351: 2349: 2346: 2344: 2341: 2339: 2336: 2335: 2333: 2329: 2323: 2320: 2318: 2315: 2314: 2312: 2310: 2306: 2300: 2297: 2295: 2292: 2290: 2289:Polyorchidism 2287: 2285: 2282: 2281: 2279: 2277: 2273: 2270: 2268: 2264: 2258: 2255: 2253: 2250: 2248: 2245: 2243: 2240: 2238: 2235: 2233: 2230: 2229: 2227: 2225: 2221: 2215: 2212: 2210: 2207: 2205: 2202: 2200: 2197: 2195: 2192: 2190: 2187: 2185: 2182: 2181: 2179: 2177: 2173: 2170: 2166: 2162: 2158: 2154: 2150: 2143: 2138: 2136: 2131: 2129: 2124: 2123: 2120: 2107: 2103: 2102: 2098: 2096: 2092: 2091: 2087: 2085: 2081: 2080: 2076: 2074: 2070: 2069: 2065: 2061: 2058: 2054: 2050: 2049: 2045: 2041: 2040: 2037: 2032: 2028: 2022: 2019: 2017: 2013: 2010: 2009: 2005: 1998: 1994: 1991:(6): 443–50. 1990: 1986: 1981: 1977: 1973: 1968: 1963: 1958: 1953: 1949: 1945: 1941: 1936: 1935: 1930: 1921: 1914: 1908: 1905: 1893: 1889: 1883: 1880: 1876: 1875: 1871: 1867: 1862: 1859: 1848: 1847: 1840: 1837: 1826: 1822: 1815: 1812: 1807: 1803: 1798: 1793: 1789: 1785: 1778: 1771: 1768: 1763: 1759: 1754: 1749: 1745: 1741: 1737: 1730: 1728: 1724: 1719: 1715: 1710: 1705: 1701: 1697: 1693: 1686: 1683: 1678: 1674: 1669: 1664: 1660: 1656: 1652: 1645: 1642: 1637: 1633: 1629: 1625: 1621: 1617: 1613: 1609: 1605: 1598: 1595: 1590: 1586: 1582: 1578: 1574: 1570: 1569:New Scientist 1566: 1559: 1556: 1551: 1547: 1543: 1539: 1535: 1531: 1527: 1523: 1515: 1512: 1500: 1494: 1491: 1479: 1475: 1469: 1466: 1461: 1457: 1452: 1447: 1443: 1439: 1435: 1428: 1425: 1413: 1409: 1403: 1400: 1384: 1380: 1373: 1367: 1364: 1358: 1353: 1349: 1345: 1341: 1334: 1331: 1326: 1322: 1317: 1312: 1308: 1304: 1300: 1293: 1290: 1285: 1278: 1271: 1268: 1256:on 2009-04-11 1252: 1245: 1239: 1236: 1231: 1227: 1222: 1217: 1213: 1209: 1205: 1198: 1195: 1190: 1186: 1183:(2): 131–47. 1182: 1178: 1171: 1168: 1162: 1159: 1148:on 2014-06-14 1147: 1143: 1137: 1134: 1129: 1125: 1121: 1117: 1113: 1109: 1105: 1101: 1094: 1092: 1090: 1086: 1081: 1077: 1073: 1069: 1065: 1061: 1057: 1053: 1045: 1042: 1037: 1033: 1029: 1025: 1021: 1017: 1014:(3): 104158. 1013: 1009: 1002: 999: 994: 990: 985: 980: 976: 972: 968: 964: 960: 953: 950: 945: 941: 936: 931: 926: 921: 917: 913: 909: 902: 900: 896: 884: 880: 873: 870: 865: 861: 857: 853: 849: 845: 838: 836: 832: 827: 823: 819: 815: 811: 807: 804:(3): 319–29. 803: 799: 792: 789: 784: 780: 776: 772: 767: 762: 758: 754: 750: 743: 740: 735: 728: 725: 713: 706: 703: 690: 686: 680: 677: 670: 666: 663: 661: 658: 656: 653: 651: 648: 646: 643: 642: 638: 633: 630: 629: 625: 620: 617: 614: 613: 608: 607:Molly McGlynn 605: 602: 598: 595: 592: 589: 586: 583: 582: 578: 576: 574: 569: 560: 558: 556: 551: 546: 538: 536: 533: 531: 530:pre-eclampsia 526: 518: 516: 514: 510: 506: 502: 498: 494: 492: 491:sigmoid colon 488: 484: 479: 475: 471: 467: 462: 460: 452: 445: 444: 442: 438: 434: 429: 428: 426: 422: 418: 414: 410: 405: 404: 403: 399: 395: 394: 390: 385: 383: 381: 380: 375: 374:chromosome 17 371: 367: 362: 360: 356: 352: 348: 344: 340: 336: 332: 331:short arm (p) 328: 327: 322: 320: 316: 308: 306: 304: 300: 295: 293: 289: 284: 282: 278: 274: 270: 266: 262: 258: 254: 250: 242: 240: 238: 235:(1787–1865), 234: 230: 225: 223: 219: 218: 211: 209: 206:and variable 205: 201: 196: 194: 190: 186: 182: 178: 174: 170: 166: 162: 158: 154: 150: 146: 142: 138: 134: 133:MRKH syndrome 130: 126: 122: 118: 109: 105: 102: 98: 94: 92: 88: 85: 82: 80: 76: 71: 67: 62: 56: 53: 50: 47: 46: 45: 41: 36: 30: 19: 2367:Vas deferens 2183: 2099: 2088: 2077: 2062: 2042: 1988: 1984: 1947: 1943: 1919: 1907: 1896:. Retrieved 1894:. 2015-01-20 1892:Cosmopolitan 1891: 1882: 1872: 1861: 1851:, retrieved 1845: 1839: 1828:. Retrieved 1824: 1814: 1790:(4): 275–9. 1787: 1783: 1770: 1743: 1739: 1699: 1695: 1685: 1661:(3): 624–5. 1658: 1654: 1644: 1611: 1607: 1597: 1575:(2965): 10. 1572: 1568: 1558: 1525: 1521: 1514: 1502:. Retrieved 1493: 1482:. Retrieved 1480:. 2023-08-22 1477: 1468: 1441: 1437: 1427: 1416:. Retrieved 1414:. 2014-10-04 1411: 1402: 1390:. Retrieved 1383:the original 1366: 1347: 1343: 1333: 1309:(2): 470–6. 1306: 1302: 1292: 1286:(in German). 1283: 1270: 1258:. Retrieved 1251:the original 1238: 1214:(5): 854–7. 1211: 1207: 1197: 1180: 1176: 1170: 1161: 1150:. Retrieved 1146:the original 1136: 1103: 1099: 1055: 1051: 1044: 1011: 1007: 1001: 966: 962: 952: 915: 911: 886:. Retrieved 883:The Guardian 882: 872: 850:(1): 33–40. 847: 843: 801: 797: 791: 756: 752: 742: 733: 727: 715:. Retrieved 705: 693:. Retrieved 688: 679: 610: 564: 561:Epidemiology 552: 548: 534: 522: 519:Experimental 495: 463: 456: 377: 370:long arm (q) 363: 335:chromosome 1 324: 323: 312: 296: 285: 246: 226: 215: 212: 208:expressivity 197: 132: 128: 124: 120: 116: 115: 29: 2420:Hypospadias 1746:(1): 73–7. 1106:(1): 8–11. 969:(1): 3–11. 717:19 November 299:amenorrhoea 161:amenorrhoea 43:Other names 2500:Categories 2435:Micropenis 2425:Epispadias 2294:Monorchism 2101:DiseasesDB 1950:(13): 13. 1898:2018-09-09 1853:2019-10-27 1830:2019-10-27 1784:The Lancet 1484:2023-08-27 1418:2023-08-27 1260:2010-04-03 1152:2012-08-18 918:(1): 214. 695:21 January 671:References 612:Fitting In 591:Shon Klose 585:Ben Barres 543:See also: 441:hypoplasia 425:hypoplasia 417:hypoplasia 402:hypoplasia 290:(IVF) and 255:including 204:penetrance 193:surrogates 84:Gynecology 2445:Diphallia 1036:231875330 963:Med Genet 573:King Otto 453:Treatment 386:Diagnosis 347:β catenin 315:mutations 292:surrogacy 265:ovulation 257:thelarche 185:infertile 107:Frequency 79:Specialty 2440:Aphallia 2404:External 2276:Testicle 2168:Internal 2157:intersex 2014:(OMIM): 1976:17359527 1806:24139033 1762:21365071 1718:27609979 1677:11570363 1628:24726478 1542:24726478 1504:14 April 1478:BBC News 1460:37037300 1412:BBC News 1392:11 April 1325:23084266 1128:33461252 1120:19165657 1080:19145776 1072:29730431 1028:33548512 993:29527097 944:32819397 864:25260227 826:39727188 775:27716927 639:See also 603:activist 601:intersex 261:pubarche 183:but are 135:), is a 95:Missing 91:Symptoms 2430:Chordee 2095:C567186 2059:, Q87.8 1997:4020785 1967:1832178 1636:6296110 1577:Bibcode 1550:6296110 1230:8893702 1189:5319813 984:5838123 935:7439721 888:10 July 501:ovaries 437:aplasia 421:aplasia 413:aplasia 398:aplasia 343:proline 339:leucine 249:puberty 231:honors 177:ovaries 173:urethra 169:bladder 155:and/or 2267:Gonads 2224:Vagina 2149:Female 2084:158330 2016:277000 1995:  1974:  1964:  1804:  1760:  1716:  1675:  1634:  1626:  1608:Lancet 1548:  1540:  1522:Lancet 1458:  1323:  1228:  1187:  1126:  1118:  1078:  1070:  1034:  1026:  991:  981:  942:  932:  862:  824:  818:320610 816:  783:283394 781:  773:  476:. The 353:, the 309:Causes 303:hernia 281:uterus 277:cervix 269:vagina 157:vagina 153:cervix 145:uterus 97:uterus 2459:Other 2412:Penis 2384:Other 2331:Other 2309:Ovary 2073:626.0 2057:Q52.0 2053:Q51.0 1916:(PDF) 1780:(PDF) 1632:S2CID 1546:S2CID 1386:(PDF) 1375:(PDF) 1280:(PDF) 1254:(PDF) 1247:(PDF) 1124:S2CID 1076:S2CID 1032:S2CID 822:S2CID 779:S2CID 511:to a 507:with 319:genes 127:, or 2159:and 2153:male 2151:and 2106:8390 2090:MeSH 2079:OMIM 2068:9-CM 1993:PMID 1972:PMID 1802:PMID 1758:PMID 1714:PMID 1673:PMID 1624:PMID 1538:PMID 1506:2014 1456:PMID 1394:2014 1321:PMID 1226:PMID 1185:PMID 1116:PMID 1068:PMID 1024:PMID 989:PMID 940:PMID 890:2016 860:PMID 844:Gene 814:PMID 771:PMID 719:2015 697:2018 689:ACOG 379:LHX1 351:WNT4 326:WNT4 217:WNT4 171:and 2161:DSD 2064:ICD 2044:ICD 1962:PMC 1952:doi 1792:doi 1748:doi 1704:doi 1663:doi 1616:doi 1612:384 1585:doi 1573:222 1530:doi 1526:384 1446:doi 1442:119 1352:doi 1311:doi 1216:doi 1108:doi 1060:doi 1016:doi 979:PMC 971:doi 930:PMC 920:doi 852:doi 848:555 806:doi 761:doi 505:IVF 461:. 372:of 341:to 333:of 2502:: 2104:: 2093:: 2082:: 2071:: 2055:, 2051:: 2048:10 1989:30 1987:. 1970:. 1960:. 1946:. 1942:. 1918:. 1890:. 1868:, 1823:. 1800:. 1786:. 1782:. 1756:. 1744:41 1742:. 1738:. 1726:^ 1712:. 1700:31 1698:. 1694:. 1671:. 1659:76 1657:. 1653:. 1630:. 1622:. 1610:. 1606:. 1583:. 1571:. 1567:. 1544:. 1536:. 1524:. 1476:. 1454:. 1440:. 1436:. 1410:. 1377:. 1348:45 1346:. 1342:. 1319:. 1307:99 1305:. 1301:. 1282:. 1224:. 1212:66 1210:. 1206:. 1181:11 1122:. 1114:. 1104:25 1102:. 1088:^ 1074:. 1066:. 1056:31 1054:. 1030:. 1022:. 1012:64 1010:. 987:. 977:. 967:30 965:. 961:. 938:. 928:. 916:15 914:. 910:. 898:^ 881:. 858:. 846:. 834:^ 820:. 812:. 802:59 800:. 777:. 769:. 757:91 755:. 751:. 687:. 575:. 532:. 305:. 279:, 224:. 195:. 123:, 2141:e 2134:t 2127:v 2066:- 2046:- 2036:D 1999:. 1978:. 1954:: 1948:2 1922:. 1901:. 1833:. 1808:. 1794:: 1788:7 1764:. 1750:: 1720:. 1706:: 1679:. 1665:: 1638:. 1618:: 1591:. 1587:: 1579:: 1552:. 1532:: 1508:. 1487:. 1462:. 1448:: 1421:. 1396:. 1360:. 1354:: 1327:. 1313:: 1265:. 1263:. 1232:. 1218:: 1191:. 1155:. 1130:. 1110:: 1082:. 1062:: 1038:. 1018:: 995:. 973:: 946:. 922:: 892:. 866:. 854:: 828:. 808:: 785:. 763:: 736:. 721:. 699:. 439:/ 423:/ 415:/ 400:/ 131:( 20:)

Index

Mayer–Rokitansky–Küster–Hauser syndrome

Specialty
Gynecology
Symptoms
uterus
vaginal hypoplasia
congenital malformation
Müllerian ducts
uterus
vaginal hypoplasia
cervix
vagina
amenorrhoea
urogenital sinus
bladder
urethra
ovaries
secondary sexual characteristics
infertile
uterus transplantation
surrogates
autosomal dominant
penetrance
expressivity
WNT4
hyperandrogenism
medical eponym
August Franz Josef Karl Mayer
Carl Freiherr von Rokitansky

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