258:
235:
region resulting in pelvic pain due to inflammation of the cervix. The Müllerian duct can be partially obstructed or fully obstructed. In the case where the Müllerian duct is partially obstructed, a reduced cervix opening obstructs menstrual bleeding flow, causing prolonged menstrual bleeding (hypomenorrhea). When there is complete obstruction, patients will present with absence of menstruation (amenorrhea). For patients where the septum extends longitudinally, bleeding will persist when a tampon is used as there are two vaginal openings, and dyspareunia (pain during intercourse) is common.
170:, resulting in underdevelopment of one or both the left and right primitive uterus and vagina (agenesis). Specifically, an arrest in the development of the paramesonephric ducts at week seven of gestation is linked to MRKH syndrome. During embryological development of the first phase, two separate uterine, cervical and vaginal pockets develop, following which a transverse septum forms across the caudal aspect in the upper two thirds of the vagina, which will dissolve when the lower one third of the vagina (developed from the
740:. DES remains bound to cytosolic receptors for a longer period of time. The extended binding time of DES and the subsequent prolonged activation of its cognate receptors has been suggested to disrupt Müllerian development, resulting in uterine abnormalities. Exposure to DES induced multiple uterine abnormalities including constriction bands, hypoplasticity in the uterine cavity and irregular borders. Females exposed to this teratogen in utero presented most commonly with a
135:, resulting in underdevelopment of both left and right primitive uterus (class I) or underdevelopment of one of the primitive uterus (class II). Class III and IV anomalies result from failure of midline fusion of the two separate primitive pockets due to an arrest of stage two of organogenesis. Class V and VI anomalies result from failure of degeneration of the midline due to an arrest at stage three of organogenesis. Class VII anomalies are malformations caused by
419:. DES uterine anomalies include hypoplastic uterus (small uterus), T-shaped uterine cavity and constrictions of the endometrial cavity. DES uterine anomalies vary in extent in different races, with foetuses of African American females being more prone to fibroids development during organogenesis. DES cervical and vaginal anomalies include hypoplasia, collar and hood malformation of the vagina and cervix and is seen in 20% of women exposed to DES.
437:
158:. Females with MRKH are unable to carry a pregnancy due to a malformed uterus, but can have children via assisted reproduction. MRKH syndrome type 1 results when only reproductive organs such as vagina are affected (vaginal agenesis) and type 2 results when abnormalities develop in other parts of the body such as abnormal kidney formation (unilateral renal agenesis).
36:
428:
for 5% to 10% of all Müllerian anomalies. While septate uterus or class II uterine anomalies account for 3% to 7% of all Müllerian anomalies. The prevalence of Müllerian anomalies also differs within the female population, occurring in 5.5% of the general population, 8% in sterile females and 13.3% in females with a history of miscarriage.
257:
339:
where one end is pulled down to form a neovagina while the other end is sealed forming a blind pouch. Complications include narrowing of the vaginal (stenosis) and weakening of pelvic floor muscles and ligaments which are unable to support the uterus (uterine prolapse). As the use of dilators are not
427:
The prevalence of vaginal agenesis or class I uterine anomalies is 1:5000 female live births globally. The most prevalent form of vaginal agenesis is Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome and results in congenital aplasia or hypoplasia of Müllerian derived structures. MRKH syndrome account
367:
DES disrupts organogenesis by disorganising uterine muscle layers causing maldevelopment of uterus and uterine tube junctions. This prevents normal columnar ciliated cell formation of the vaginal epithelium and reabsorption of vaginal glands. When absorbed, DES is broken down to produce a transient
322:
The McIndoe procedure uses a split-thickness skin graft from the patient where it is placed over an obturator and sewn at the ends to from a tube with one closed end. A transverse incision at the vaginal dimple and a small cavity is made at the level of the peritoneum by the surgeon. The skin graft
221:
Patients who have not reached puberty are asymptomatic and diagnosis is difficult at this stage as the vagina and uterus are not fully developed. Estrogenization during puberty will increase the size of the uterus and allow for accurate evaluation. Symptomatic patients will present with pain at the
1043:
Reyes-Muñoz, Enrique; Vitale, Salvatore
Giovanni; Alvarado-Rosales, Deisi; Iyune-Cojab, Esther; Vitagliano, Amerigo; Lohmeyer, Franziska Michaela; Guevara-Gómez, Yenara Patricia; Villarreal-Barranca, Alma; Romo-Yañez, José; Montoya-Estrada, Araceli; Morales-Hernández, Fela Vanesa; Aguayo-González,
234:
is based on ultrasound findings of two endometrial cavities and a smooth contouring of the fundus. The septum separating both endometrial cavities is thin and may descend into the cervix of the vagina. An over extended septum can cause the cervix to be obstructed, allowing pathogens to infect the
937:
Correcting the anomaly prior to commencing assisted reproductive technologies can increase the possibility of reproductive success by increasing the chance of implantation and reducing the likelihood of complications occurring after pregnancy occurs. A greater rate of successful pregnancies are
460:
system. Initially in the embryo, both the
Wolffian (mesonephric) and Müllerian (paramesonephric) ducts are present, where development of the Wolffian ducts give rise to the male reproductive tract and development of the Müllerian ducts give rise to the female reproductive tract. These ducts are
131:
distinguished according to anatomy into seven classes based on the
American Society for Reproductive Medicine (ASRM) classification system. Class I and II anomalies result from underdevelopment of the two separate primitive uterine, vaginal and cervical pockets due to an arrest of stage one of
843:
The degree to which the Müllerian anomaly impairs the reproductive potential of a woman varies between individuals, and is dependent on the type of anomaly and its severity. Women with minor fusion defects such as arcuate uteri and septate uteri tend to have a lower risk of aversive pregnancy
839:
uteri present with a decreased uterine size and subsequent lower muscle mass. A diminished uterine capacity reduces the likelihood of the foetus reaching full-term development due to spatial constraints, explaining the higher rates of preterm births observed in women with Müllerian anomalies.
565:
The second stage of Müllerian duct development involves the fusion of the inferior portion of the ducts to form the uterus, cervix and upper two-thirds of the vagina. The superior part of the Müllerian ducts do not fuse and form the left and right fallopian tubes. Disruptions to this stage of
309:
The Frank and Ingram procedure is a common non-operative procedure used to increase function of the vaginal via dilators. The method uses graduated dilators to progressively invaginate the mucosa to dilate the opening, increasing depth and functionality of the vaginal over time. The Ingram
130:
and upper two-thirds of the vagina. Embryogenesis of the Müllerian ducts play important roles in ensuring normal development of the female reproductive tract. However, when defects in each of the three phases of embryogenesis occur, it results in specific structural malformations which are
818:
Physiological changes that occur in conjunction with Müllerian anomalies explain why some women with the disorder experience difficulties maintaining pregnancy. These physiological changes include compromised blood flow to the uterus, low uterine muscle mass and an insufficient cervix.
602:, where the septum divides the uterine cavity. More than 50% of women with reported Müllerian anomalies have septate uteri. It is common for other developmental defects to occur in conjunction with Müllerian anomalies, including renal, skeletal, auditory and cardiac abnormalities.
153:
Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome is a class I developmental disorder of the Müllerian ducts where the vagina and uterus are underdeveloped or absent. Females with MRHK syndrome have normal chromosome pattern of 46,XX karyotype, with normal functioning ovaries and
327:. Synthetic skin grafts are also an alternative, eliminating the need for skin grafts from patients. The use of dilators post operation for three to six months is required to prevent contraction of the vagina. Complications include skin graft failure due to the formation of a
1419:
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L (November 2016). "17q12 deletion and duplication syndrome in
Denmark – A clinical cohort of 38 patients and review of the literature".
614:, socioeconomic factors and geographic factors playing a role in dysfunctional Müllerian duct development. Müllerian anomalies likely occur early in development, as the congenital disorder often occurs in association with renal and anorectal disorders.
395:
DES is also an endocrine disrupting compound (EDC) which alters normal hormone responses required for reproductive tract development in foetuses. A dose–response association for DES has not been establish but an association with the time of exposure
688:
of particular genes. EMX2 mutations result in incomplete Müllerian fusion. Some women with unicornuate uteri exhibit mutant EMX2 and significantly decreased expression of TP63, implicating TP63 in the fusion stage of Müllerian development.
331:
beneath the graft, postoperative hematoma that prevents the graft from receiving adequate nourishment, rectal perforation and fistula formation. Patients with prior history of vaginal or perineal surgery have higher complication rates.
2026:
Hoover RN, Hyer M, Pfeiffer RM, Adam E, Bond B, Cheville AL, Colton T, Hartge P, Hatch EE, Herbst AL, Karlan BY, Kaufman R, Noller KL, Palmer JR, Robboy SJ, Saal RC, Strohsnitter W, Titus-Ernstoff L, Troisi R (October 2011).
103:, and X-linked disorders. Müllerian anomalies can be part of a multiple malformation syndrome. Studies have estimated that Mullerian anomalies can affect between 4 percent and nearly 7 percent of the female population.
245:, which appears as cavitated uterine buds on images, and are unable to be detected by ultrasound. MRI provides three-dimensional information of both internal and external contours and can differentiate septate from
656:
display androgenisation, the presence of
Wolffian ducts and absence of Müllerian ducts. This effect is mirrored in humans, where mutations in the WNT4 gene has been observed in MRKH syndrome patients, who display
581:
The third and final stage of Müllerian duct development is septal resorption. After the lower Müllerian ducts fuse, a central septum is left behind, and this partition must be eliminated to give rise to a single
822:
An insufficient flow of blood to the uterus would compromise nutritional supply to the foetus and waste removal from the foetus, and this can explain the heightened occurrence of low foetal birth weight
1690:
Pellerito JS, McCarthy SM, Doyle MB, Glickman MG, DeCherney AH (June 1992). "Diagnosis of uterine anomalies: relative accuracy of MR imaging, endovaginal sonography, and hysterosalpingography".
213:
at position q12 on chromosome 17 which are linked to Müllerian anomalies. Most 17q12 deletions result from genetic mutations in people with no known history of MRHK syndrome in their family.
310:
modification involves using a bicycle seat positioned between the legs allowing direct contact with the perineum creating pressure on the vagina. Thus, by applying pressure to the mucosa, a
519:
The formation of the female reproductive tract via the Müllerian ducts has 3 distinct stages. An array of Müllerian anomalies can occur if any of these processes are arrested or impaired.
484:
Development of the female reproductive tract begins at approximately week 8 of embryonic development, and development of the Müllerian duct system is typically complete by the end of the
900:
produced. The normal follicular function, oocyte population and estrogen levels in women with Müllerian anomalies occurs as normal ovarian function is not compromised in the disease.
661:. Mutations in WNT4 gene are not always present in individuals with Müllerian anomalies or MRKH syndrome, but the WNT4 gene is the only gene that has been clearly implicated in MRKH.
174:) fuses with the upper two thirds. An arrest at this stage means midline fusion of pockets do not occur and subsequently are unable to develop into a whole uterus, cervix and vagina.
716:. The use of DES was discontinued after it was established that approximately 69% of females who were exposed to DES in utero had uterine abnormalities. DES has been marked as a
799:
of Müllerian anomalies has resulted in earlier diagnosis and treatment. Uterine obstructions can be surgically repaired or managed to result in successful perinatal outcomes.
1725:
Bhagavath B, Ellie G, Griffiths KM, Winter T, Alur-Gupta S, Richardson C, Lindheim SR (June 2017). "Uterine
Malformations: An Update of Diagnosis, Management, and Outcomes".
1596:
Kamio M, Nagata C, Sameshima H, Togami S, Kobayashi H (July 2018). "Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome with septic shock: A case report".
54:
526:, where both Müllerian ducts are formed. If the formation of the Müllerian ducts is impaired or does not occur, this can give rise to uterine, cervical and/or vaginal
301:
in uterus malformations are also responsible for renal and skeletal developmental anomalies. However, the mechanism of action of these genes has not been established.
558:
does not occur by the age of 16. In the first stage of development, it is also possible for only one Müllerian duct to develop, giving rise to a single uterine horn (
2954:
Marcus S, al-Shawaf T, Brinsden P (July 1996). "The obstetric outcome of in vitro fertilization and embryo transfer in women with congenital uterine malformation".
640:
is a gene that has a crucial role in embryonic development, particularly to ensure the normal formation of the female reproductive system, the kidneys and several
1879:
Theodoridis TD, Pappas PD, Grimbizis GF (February 2019). "Surgical management of congenital uterine anomalies (including indications and surgical techniques)".
994:
265:(modern day humans) reflecting an anomalous extension of the septum, resulting in inflammation and hypomenorrhea due to reduction of the cervical opening.
92:
development as an embryo forms. Factors contributing to them include genetics and maternal exposure to substances that interfere with fetal development.
2291:
Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C (April 2008). "Genomic imbalances associated with mullerian aplasia".
277:
or malformation of collecting ducts. Skeletal malformations which include congenital dislocation of the hip, malformations of the arms, foot, ribs,
351:(DES) was a synthetic oestrogen supplement introduced in 1938 to decrease miscarriage in the first trimester by enhancing the oestrogen dependent
2780:
Fox NS, Roman AS, Stern EM, Gerber RS, Saltzman DH, Rebarber A (June 2014). "Type of congenital uterine anomaly and adverse pregnancy outcomes".
1512:
Colvin CW, Abdullatif H (January 2013). "Anatomy of female puberty: The clinical relevance of developmental changes in the reproductive system".
2563:
Mittendorf R (June 1995). "Teratogen update: carcinogenesis and teratogenesis associated with exposure to diethylstilbestrol (DES) in utero".
380:
DES exposure has additionally been linked to epigenetic changes responsible for uterine anomalies such as dysregulation of the homeobox gene
205:(CNVs) deletion of 17q12 is present in both type 1 and type 2 MRKH patients. The deletion of 17q12 results in a loss of 2 specific genes,
1976:"Hypermethylation of homeobox A10 by in utero diethylstilbestrol exposure: an epigenetic mechanism for altered developmental programming"
2343:
Sultan C, Biason-Lauber A, Philibert P (January 2009). "Mayer–Rokitansky–Kuster–Hauser syndrome: recent clinical and genetic findings".
1463:
Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, Phillips JA, Erman M, Kim HG, Alper OM, Layman LC (July 2017).
803:
2655:
Cahen-Peretz A, Sheiner E, Friger M, Walfisch A (January 2019). "The association between Müllerian anomalies and perinatal outcome".
1392:
802:
Normal ovarian function is not interrupted in females with Müllerian anomalies and women with the anomaly have been able to utilise
72:
1046:"Müllerian Anomalies Prevalence Diagnosed by Hysteroscopy and Laparoscopy in Mexican Infertile Women: Results from a Cohort Study"
877:
1760:
Choussein S, Nasioudis D, Schizas D, Economopoulos KP (June 2017). "Mullerian dysgenesis: a critical review of the literature".
610:
The causes of Müllerian anomalies are not well-understood. The aetiology of this congenital disease may be multifactorial, with
440:
The stages of Müllerian duct development in the human embryo and its associated outcomes during normal and impaired development.
824:
785:
776:. Due to improper development of the uterus and fallopian tubes, pregnancies in women with Müllerian anomalies could result in
1019:
155:
911:
does not always lead to a successful pregnancy. If an individual has a reduced likelihood of effective implantation, a
574:
uteri anomalies. In both didelphys and bicornuate uteri, the non-fusion of the Müllerian ducts results in two distinct
2995:
2241:"Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal"
445:
238:
562:). Unicornuate uteri commonly develop on the right side, although the reason for this preference remains elusive.
400:
suggest exposure to DES at a certain embryological stage leads to increase susceptibility to Müllerian anomalies.
470:
481:. The Müllerian ducts only develop in the absence of anti-Müllerian hormone, where the Wolffian ducts regress.
2127:"The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review"
768:
population. Women who do experience some obstetric complications usually have trouble maintaining full-term
713:
269:
Malformation of the Müllerian ducts in foetuses can result in exhibition of extragenital anomalies such as
2826:
Heinonen PK, Kuismanen K, Ashorn R (April 2000). "Assisted reproduction in women with uterine anomalies".
873:
649:
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observed in women with septate uteri when the septum is operated on prior to implantation of the embryo.
919:
828:
777:
749:
462:
407:(DES daughters) have abnormalities in development in three areas of the Müllerian duct, namely of their
115:
111:
947:
535:
148:
1104:
721:
773:
202:
95:
Genetic causes of Müllerian duct anomalies are complicated and uncommon. Inheritance patterns can be
1927:"Exposure to diethylstilbestrol during sensitive life stages: a legacy of heritable health effects"
912:
892:, women with Müllerian anomalies exhibit no differences in number of follicles produced, number of
885:
807:
789:
100:
469:) gene on the Y chromosome suppresses Müllerian duct development, by initiating the production of
2805:
2680:
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1904:
1785:
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1298:
904:
725:
697:
626:
559:
551:
453:
348:
136:
96:
864:
syndrome, have an increased chance of poor reproductive outcomes without surgical intervention.
680:. The TP63 protein is required for epithelial differentiation during Müllerian duct development
621:(46, XX). Most incidences of Müllerian anomalies occur sporadically, with instances of familial
114:, referring to ducts next to (para) the mesonephric (Wolffian) duct during foetal development.
2971:
2936:
2895:
2843:
2797:
2762:
2722:
2672:
2624:
2580:
2545:
2491:
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Rackow BW, Arici A (June 2007). "Reproductive performance of women with müllerian anomalies".
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2412:
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2050:
2005:
1956:
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1777:
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1707:
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1183:
1134:
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1085:
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931:
889:
745:
457:
274:
246:
89:
2913:
Chan YY, Jayaprakasan K, Tan A, Thornton JG, Coomarasamy A, Raine-Fenning NJ (October 2011).
2432:"A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman"
2078:"Early-life exposures and early-onset uterine leiomyomata in black women in the Sister Study"
2963:
2926:
2885:
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2138:
2097:
2089:
2040:
1995:
1987:
1946:
1938:
1888:
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Reichman DE, Laufer MR (April 2010). "Congenital uterine anomalies affecting reproduction".
1816:
1769:
1734:
1699:
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1652:
1605:
1568:
1521:
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1380:
1336:
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1214:
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1165:
1116:
1075:
1057:
976:
952:
927:
923:
705:
658:
575:
436:
385:
352:
171:
2391:"Novel mutations in the TP63 gene are potentially associated with Müllerian duct anomalies"
1465:"Genetic analysis of Mayer–Rokitansky–Kuster–Hauser syndrome in a large cohort of families"
314:
forms. It takes between four months up to several years for complete successful treatment.
881:
741:
489:
485:
340:
required for sigmoid vaginoplasty, this treatment is favoured over the McIndoe procedure.
1269:"Müllerian duct anomalies: embryological development, classification, and MRI assessment"
872:
Women with Müllerian anomalies often utilise assisted reproductive technologies such as
625:
patterns being less common. The genetic component of the disease classically follows an
2915:"Reproductive outcomes in women with congenital uterine anomalies: a systematic review"
2890:
2865:
2151:
2126:
2125:
Chan YY, Jayaprakasan K, Zamora J, Thornton JG, Raine-Fenning N, Coomarasamy A (2011).
2102:
2077:
2000:
1975:
1951:
1926:
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1227:
1202:
1178:
1153:
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599:
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583:
231:
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MRKH syndrome occurs from an arrest in the embryonic development in the first phase of
2967:
2839:
2540:
2523:
685:
222:
uterus area due to infections or abnormal vaginal bleeding with cyclical pelvic pain.
2989:
1821:
1804:
1573:
1556:
1480:
781:
591:
523:
513:
474:
336:
278:
167:
132:
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107:
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Müllerian anomalies occur as a congenital malformation of the Müllerian ducts during
2809:
2702:
2684:
2372:
2320:
2062:
1908:
1789:
1703:
1625:
1541:
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1302:
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outcome, compared to patients with major fusion defects, such as unicornuate uteri,
2601:
Raga F, Bauset C, Remohi J, Bonilla-Musoles F, Simón C, Pellicer A (October 1997).
2503:
934:. These risks can be minimised if assisted reproductive technologies are utilised.
796:
555:
324:
282:
17:
2718:
2668:
1892:
1857:
1358:
2793:
2487:
2198:
1738:
1639:
de França Neto AH, Nóbrega BV, Clementino Filho J, do Ó TC, de Amorim MM (2014).
1402:
1375:
Aiguo W, Guangren D (2007). "PMID Observer Design of
Descriptor Linear Systems".
2619:
2602:
1154:"Molecular genetics of Müllerian duct formation, regression and differentiation"
733:
709:
622:
356:
242:
143:
Vaginal agenesis (Mayer–Rokitansky–Kuster–Hauser syndrome) and class I anomalies
2214:
1384:
1121:
1062:
392:, altering long term expression of genes which controls uterine organogenesis.
2881:
2758:
2356:
1773:
857:
845:
836:
760:
The incidence of individuals with Müllerian anomalies is twice as high in the
677:
571:
543:
527:
509:
270:
198:
194:
1130:
1071:
2576:
2407:
2390:
2304:
2257:
2240:
2142:
1201:
Chandler TM, Machan LS, Cooperberg PL, Harris AC, Chang SD (December 2009).
849:
832:
769:
761:
717:
641:
618:
567:
360:
311:
2940:
2899:
2847:
2801:
2766:
2726:
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2549:
2495:
2457:
2416:
2364:
2312:
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2206:
2160:
2111:
2054:
2009:
1960:
1900:
1865:
1830:
1781:
1746:
1676:
1617:
1582:
1533:
1498:
1441:
1350:
1294:
1236:
1218:
1187:
1138:
1089:
118:
are paired ducts derived from the embryo, and for females develop into the
2975:
2628:
2584:
2045:
2028:
1711:
1657:
977:"Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology"
2448:
2431:
2029:"Adverse health outcomes in women exposed in utero to diethylstilbestrol"
1991:
1433:
897:
853:
737:
729:
701:
611:
531:
478:
364:
328:
2093:
1323:
Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M (February 2017).
1267:
Robbins JB, Broadwell C, Chow LC, Parry JP, Sadowski EA (January 2015).
918:
Women that present with unicornuate uteri may have an increased risk of
1942:
1285:
1268:
893:
765:
505:
368:
quinone-like reactive intermediate that alters normal gene function of
2931:
2914:
1803:
Jasonni VM, La Marca A, Naldi S, Matonti G, D'Anna R (December 2007).
1609:
1341:
1324:
1169:
2389:
Wang X, Zhang X, Liu S, Li G, Cui L, Qin Y, Chen ZJ (December 2016).
1525:
681:
501:
497:
493:
449:
416:
412:
408:
297:
291:
287:
285:
are associated with Müllerian anomalies. Mutations of homeobox genes
127:
119:
2828:
European
Journal of Obstetrics, Gynecology, and Reproductive Biology
1641:"Intrapartum diagnosis and treatment of longitudinal vaginal septum"
1103:
Passos, Itana de Mattos Pinto e; Britto, Renata Lopes (2020-03-01).
323:
and obturator are inserted into the vagina vault and secured to the
2864:
Attia KI, Hug-Koronya M, Ginsburg ES, Hornstein MD (October 2001).
2707:
Best
Practice & Research. Clinical Obstetrics & Gynaecology
1881:
Best
Practice & Research. Clinical Obstetrics & Gynaecology
1846:
Best Practice & Research. Clinical Obstetrics & Gynaecology
915:
can be appointed to increase the chance of a successful pregnancy.
903:
In patients with uterine anomalies, there may be a chance that the
617:
Typically, women with Müllerian abnormalities have a normal female
335:
The Sigmoid vaginaplasty procedure uses a segment of the patient's
241:(MRI) is useful in detecting obstruction of the endometrium due to
2866:"Effects of Mullerian anomalies on in vitro fertilization outcome"
2430:
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ (August 2004).
435:
256:
861:
831:
in women with Müllerian anomalies. Women with anomalies such as
673:
669:
637:
547:
539:
185:
are decreased in people with MRKH. Mice with mutant alleles for
508:
are not part of the Müllerian system and arise from primordial
908:
752:, and an overall increased risk of adverse pregnancy outcome.
652:, while suppressing male sexual differentiation. Mice lacking
466:
29:
930:, while individuals with unicornuate uteri may be at risk of
1325:"Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome"
810:
to increase the chance of successful reproductive outcomes.
2076:
D'Aloisio AA, Baird DD, DeRoo LA, Sandler DP (March 2012).
2745:
Breech LL, Laufer MR (March 2009). "Müllerian anomalies".
1557:"Complete septate uterus with longitudinal vaginal septum"
1203:"Mullerian duct anomalies: from diagnosis to intervention"
177:
Changes in the sequences of DNA bases due to mutations in
1805:"The management of vaginal agenesis: report of 104 cases"
720:
as it results in malformation of the embryo. DES is more
2603:"Reproductive impact of congenital Müllerian anomalies"
2524:"Effect of diethylstilbestrol on reproductive function"
261:
Illustration of a cross section of a septate uterus in
50:
629:
pattern, with variable rates of genotypic expression.
2782:
The Journal of Maternal-Fetal & Neonatal Medicine
2703:"Congenital uterine anomalies affecting reproduction"
2657:
The Journal of Maternal-Fetal & Neonatal Medicine
907:
can be compromised, such that implantation following
2650:
2648:
2646:
2644:
2642:
2640:
2638:
1105:"Diagnosis and treatment of müllerian malformations"
728:
and binds to cytosolic receptors after crossing the
538:, also known as the Mayer–Rokitansky–Kuster–Hauser (
273:anomalies that includes unilateral renal agenesis,
88:are those structural anomalies caused by errors in
45:
may be too technical for most readers to understand
2747:Obstetrics and Gynecology Clinics of North America
1598:The Journal of Obstetrics and Gynaecology Research
792:, placental abruption and other malpresentations.
488:. The Müllerian ducts develop to give rise to the
2234:
2232:
2230:
2228:
2226:
2224:
1414:
1412:
522:The first stage of Müllerian duct development is
2821:
2819:
2696:
2694:
2517:
2515:
2513:
1974:Bromer JG, Wu J, Zhou Y, Taylor HS (July 2009).
676:gene, which is expressed in uterine and vaginal
2384:
2382:
2286:
2284:
2282:
2280:
2278:
2276:
2185:Shulman LP (June 2008). "Müllerian anomalies".
2180:
2178:
2176:
2174:
2172:
2170:
2740:
2738:
2736:
2596:
2594:
2476:Current Opinion in Obstetrics & Gynecology
2469:
2467:
2338:
2336:
2334:
2332:
2330:
2021:
2019:
1318:
1316:
1314:
1312:
1262:
1260:
1258:
1256:
1254:
1252:
1250:
1248:
1246:
1109:Taiwanese Journal of Obstetrics and Gynecology
376:affecting differentiation of Müllerian ducts.
110:. The Müllerian ducts are also referred to as
2956:American Journal of Obstetrics and Gynecology
2870:Journal of Assisted Reproduction and Genetics
2859:
2857:
1370:
1368:
970:
968:
594:. Defects in septal resorption may produce a
8:
1931:Birth Defects Research. Part C, Embryo Today
1920:
1918:
1422:American Journal of Medical Genetics. Part A
546:absence of the vagina or uterus. Women with
704:that was used during 1940–1971, to prevent
197:indicating these genes may cause MRKH-like
2239:Saravelos SH, Cocksedge KA, Li TC (2008).
465:. In males, the sex-determining region Y (
344:Diethylstilbestrol and class VII anomalies
193:display varying extents of Müllerian duct
2930:
2919:Ultrasound in Obstetrics & Gynecology
2889:
2618:
2539:
2447:
2406:
2256:
2150:
2101:
2044:
1999:
1950:
1820:
1666:
1656:
1645:Case Reports in Obstetrics and Gynecology
1572:
1488:
1340:
1284:
1226:
1177:
1120:
1079:
1061:
73:Learn how and when to remove this message
57:, without removing the technical details.
461:identical until approximately week 6 of
226:Clinical presentations of septate uterus
964:
948:Mayer–Rokitansky–Küster–Hauser syndrome
1727:Obstetrical & Gynecological Survey
2701:Reichman DE, Laufer MR (April 2010).
1762:Archives of Gynecology and Obstetrics
1273:Journal of Magnetic Resonance Imaging
55:make it understandable to non-experts
7:
2522:Goldberg JM, Falcone T (July 1999).
253:Development defects in other tissues
217:Clinical presentations and diagnosis
2436:The New England Journal of Medicine
2033:The New England Journal of Medicine
672:is a tumour protein encoded by the
2187:Clinical Obstetrics and Gynecology
888:. Compared to individuals with no
868:Assisted reproductive technologies
804:assisted reproductive technologies
744:, resulting in increased rates of
25:
2082:Environmental Health Perspectives
756:Impact on fertility and pregnancy
281:in the lumbar spine and cervical
201:in humans. A commonly identified
1925:Reed CE, Fenton SE (June 2013).
1822:10.1016/j.fertnstert.2007.01.126
1574:10.1016/j.fertnstert.2005.08.039
1481:10.1016/j.fertnstert.2017.05.017
1207:The British Journal of Radiology
1152:Mullen RD, Behringer RR (2014).
878:intracytoplasmic sperm injection
34:
1704:10.1148/radiology.183.3.1584936
1377:2007 Chinese Control Conference
825:intrauterine growth restriction
786:intrauterine growth restriction
550:syndrome commonly present with
403:Female foetuses exposed to DES
1:
2968:10.1016/S0002-9378(96)70255-7
2840:10.1016/S0301-2115(99)00198-0
2719:10.1016/j.bpobgyn.2009.09.006
2669:10.1080/14767058.2017.1370703
2541:10.1016/S0015-0282(99)00153-3
1893:10.1016/j.bpobgyn.2019.02.006
1858:10.1016/j.bpobgyn.2009.09.006
700:is a synthetic non-steroidal
648:gene pathway promotes female
249:and other complex anomalies.
156:secondary sex characteristics
2794:10.3109/14767058.2013.847082
2488:10.1097/GCO.0b013e32814b0649
2199:10.1097/GRF.0b013e31816feba0
1739:10.1097/OGX.0000000000000444
1001:. University of Pennsylvania
500:and upper two-thirds of the
2345:Gynecological Endocrinology
2293:Journal of Medical Genetics
1020:"What is Vaginal Agenesis?"
852:uteri. Females with severe
542:) syndrome, results in the
3012:
1555:Heinonen PK (March 2006).
1385:10.1109/chicc.2006.4347343
1379:. IEEE. pp. 161–165.
1122:10.1016/j.tjog.2020.01.003
1063:10.3390/diagnostics9040149
772:, rather than issues with
566:development can result in
446:female reproductive system
239:Magnetic resonance imaging
146:
2759:10.1016/j.ogc.2009.02.002
2620:10.1093/humrep/12.10.2277
2357:10.1080/09513590802288291
2245:Human Reproduction Update
2131:Human Reproduction Update
1774:10.1007/s00404-017-4372-2
736:as quickly as endogenous
896:retrieved, or levels of
693:Diethylstilbestrol (DES)
86:Müllerian duct anomalies
2882:10.1023/A:1011950202480
2577:10.1002/tera.1420510609
2528:Fertility and Sterility
2305:10.1136/jmg.2007.051839
1809:Fertility and Sterility
1561:Fertility and Sterility
1469:Fertility and Sterility
1044:Patricia (2019-10-17).
1024:Urology Care Foundation
975:Amesse LS (June 2016).
764:population than in the
714:pregnancy complications
512:, which develop at the
874:in vitro fertilisation
650:sexual differentiation
471:anti-Müllerian hormone
441:
305:Non-surgical treatment
266:
2408:10.1093/humrep/dew259
2258:10.1093/humupd/dmn018
2143:10.1093/humupd/dmr028
2046:10.1056/NEJMoa1013961
995:"Mullerian Anomalies"
920:spontaneous abortions
829:spontaneous abortions
814:Maintaining pregnancy
778:spontaneous abortions
750:spontaneous abortions
463:embryonic development
439:
260:
116:Paramesonephric ducts
112:paramesonephric ducts
2449:10.1056/NEJMoa040533
1992:10.1210/en.2009-0071
1434:10.1002/ajmg.a.37848
1219:10.1259/bjr/99354802
795:Advancements in the
355:and implantation of
203:copy number variants
2094:10.1289/ehp.1103620
1658:10.1155/2014/108973
913:gestational carrier
886:gestational carrier
808:gestational carrier
790:perinatal mortality
684:, by promoting the
101:autosomal recessive
18:Mullerian anomalies
2607:Human Reproduction
2395:Human Reproduction
1943:10.1002/bdrc.21035
1286:10.1002/jmri.24771
1158:Sexual Development
905:endometrial cavity
726:steroidal estrogen
627:autosomal dominant
560:unicornuate uterus
552:primary amenorrhea
536:Müllerian agenesis
454:external genitalia
442:
363:, by crossing the
349:Diethylstilbestrol
318:Surgical treatment
267:
187:Wnt4, Wnt5a, Wnt7a
149:Müllerian agenesis
137:Diethylstilbestrol
97:autosomal dominant
2996:Genetic anomalies
2932:10.1002/uog.10056
2401:(12): 2865–2871.
1610:10.1111/jog.13656
1475:(1): 145–151.e2.
1428:(11): 2934–2942.
1342:10.1111/cge.12883
1329:Clinical Genetics
1170:10.1159/000364935
932:ectopic pregnancy
890:uterine anomalies
746:ectopic pregnancy
359:. DES is a known
275:horseshoe kidneys
247:bicornuate uterus
83:
82:
75:
27:Medical condition
16:(Redirected from
3003:
2980:
2979:
2951:
2945:
2944:
2934:
2910:
2904:
2903:
2893:
2861:
2852:
2851:
2823:
2814:
2813:
2777:
2771:
2770:
2742:
2731:
2730:
2698:
2689:
2688:
2652:
2633:
2632:
2622:
2598:
2589:
2588:
2560:
2554:
2553:
2543:
2519:
2508:
2507:
2471:
2462:
2461:
2451:
2427:
2421:
2420:
2410:
2386:
2377:
2376:
2340:
2325:
2324:
2288:
2271:
2270:
2260:
2236:
2219:
2218:
2182:
2165:
2164:
2154:
2122:
2116:
2115:
2105:
2073:
2067:
2066:
2048:
2023:
2014:
2013:
2003:
1971:
1965:
1964:
1954:
1922:
1913:
1912:
1876:
1870:
1869:
1841:
1835:
1834:
1824:
1800:
1794:
1793:
1768:(6): 1369–1381.
1757:
1751:
1750:
1722:
1716:
1715:
1687:
1681:
1680:
1670:
1660:
1636:
1630:
1629:
1604:(7): 1326–1329.
1593:
1587:
1586:
1576:
1552:
1546:
1545:
1526:10.1002/ca.22164
1514:Clinical Anatomy
1509:
1503:
1502:
1492:
1460:
1454:
1453:
1416:
1407:
1406:
1372:
1363:
1362:
1344:
1320:
1307:
1306:
1288:
1264:
1241:
1240:
1230:
1213:(984): 1034–42.
1198:
1192:
1191:
1181:
1149:
1143:
1142:
1124:
1100:
1094:
1093:
1083:
1065:
1040:
1034:
1033:
1031:
1030:
1016:
1010:
1009:
1007:
1006:
991:
985:
984:
972:
953:Vaginal agenesis
928:preterm delivery
924:premature labour
706:premature births
659:hyperandrogenism
576:uterine cavities
448:consists of the
386:hypermethylation
353:follicular phase
172:urogenital sinus
78:
71:
67:
64:
58:
38:
37:
30:
21:
3011:
3010:
3006:
3005:
3004:
3002:
3001:
3000:
2986:
2985:
2984:
2983:
2953:
2952:
2948:
2912:
2911:
2907:
2863:
2862:
2855:
2825:
2824:
2817:
2779:
2778:
2774:
2744:
2743:
2734:
2700:
2699:
2692:
2654:
2653:
2636:
2613:(10): 2277–81.
2600:
2599:
2592:
2562:
2561:
2557:
2521:
2520:
2511:
2473:
2472:
2465:
2429:
2428:
2424:
2388:
2387:
2380:
2342:
2341:
2328:
2290:
2289:
2274:
2238:
2237:
2222:
2184:
2183:
2168:
2124:
2123:
2119:
2075:
2074:
2070:
2039:(14): 1304–14.
2025:
2024:
2017:
1973:
1972:
1968:
1924:
1923:
1916:
1878:
1877:
1873:
1843:
1842:
1838:
1802:
1801:
1797:
1759:
1758:
1754:
1724:
1723:
1719:
1689:
1688:
1684:
1638:
1637:
1633:
1595:
1594:
1590:
1554:
1553:
1549:
1511:
1510:
1506:
1462:
1461:
1457:
1418:
1417:
1410:
1395:
1374:
1373:
1366:
1322:
1321:
1310:
1266:
1265:
1244:
1200:
1199:
1195:
1151:
1150:
1146:
1102:
1101:
1097:
1042:
1041:
1037:
1028:
1026:
1018:
1017:
1013:
1004:
1002:
993:
992:
988:
974:
973:
966:
961:
944:
884:(ET), and/or a
882:embryo transfer
870:
816:
758:
742:T-shaped uterus
695:
667:
635:
633:WNT4 signalling
608:
490:fallopian tubes
486:first trimester
434:
425:
346:
320:
307:
255:
228:
219:
164:
151:
145:
79:
68:
62:
59:
51:help improve it
48:
39:
35:
28:
23:
22:
15:
12:
11:
5:
3009:
3007:
2999:
2998:
2988:
2987:
2982:
2981:
2946:
2905:
2853:
2815:
2772:
2732:
2713:(2): 193–208.
2690:
2634:
2590:
2555:
2509:
2463:
2422:
2378:
2326:
2272:
2220:
2166:
2117:
2068:
2015:
1986:(7): 3376–82.
1966:
1914:
1871:
1852:(2): 193–208.
1836:
1795:
1752:
1733:(6): 377–392.
1717:
1698:(3): 795–800.
1682:
1631:
1588:
1547:
1504:
1455:
1408:
1393:
1364:
1335:(2): 233–246.
1308:
1242:
1193:
1144:
1115:(2): 183–188.
1095:
1035:
1011:
986:
963:
962:
960:
957:
956:
955:
950:
943:
940:
869:
866:
815:
812:
757:
754:
694:
691:
666:
663:
634:
631:
607:
604:
600:arcuate uterus
596:septate uterus
588:cervical canal
584:uterine cavity
458:Müllerian duct
433:
430:
424:
421:
345:
342:
319:
316:
306:
303:
254:
251:
232:septate uterus
227:
224:
218:
215:
163:
160:
147:Main article:
144:
141:
90:Müllerian duct
81:
80:
42:
40:
33:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3008:
2997:
2994:
2993:
2991:
2977:
2973:
2969:
2965:
2961:
2957:
2950:
2947:
2942:
2938:
2933:
2928:
2925:(4): 371–82.
2924:
2920:
2916:
2909:
2906:
2901:
2897:
2892:
2887:
2883:
2879:
2876:(10): 544–7.
2875:
2871:
2867:
2860:
2858:
2854:
2849:
2845:
2841:
2837:
2833:
2829:
2822:
2820:
2816:
2811:
2807:
2803:
2799:
2795:
2791:
2788:(9): 949–53.
2787:
2783:
2776:
2773:
2768:
2764:
2760:
2756:
2752:
2748:
2741:
2739:
2737:
2733:
2728:
2724:
2720:
2716:
2712:
2708:
2704:
2697:
2695:
2691:
2686:
2682:
2678:
2674:
2670:
2666:
2662:
2658:
2651:
2649:
2647:
2645:
2643:
2641:
2639:
2635:
2630:
2626:
2621:
2616:
2612:
2608:
2604:
2597:
2595:
2591:
2586:
2582:
2578:
2574:
2571:(6): 435–45.
2570:
2566:
2559:
2556:
2551:
2547:
2542:
2537:
2533:
2529:
2525:
2518:
2516:
2514:
2510:
2505:
2501:
2497:
2493:
2489:
2485:
2482:(3): 229–37.
2481:
2477:
2470:
2468:
2464:
2459:
2455:
2450:
2445:
2441:
2437:
2433:
2426:
2423:
2418:
2414:
2409:
2404:
2400:
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2392:
2385:
2383:
2379:
2374:
2370:
2366:
2362:
2358:
2354:
2350:
2346:
2339:
2337:
2335:
2333:
2331:
2327:
2322:
2318:
2314:
2310:
2306:
2302:
2299:(4): 228–32.
2298:
2294:
2287:
2285:
2283:
2281:
2279:
2277:
2273:
2268:
2264:
2259:
2254:
2251:(5): 415–29.
2250:
2246:
2242:
2235:
2233:
2231:
2229:
2227:
2225:
2221:
2216:
2212:
2208:
2204:
2200:
2196:
2193:(2): 214–22.
2192:
2188:
2181:
2179:
2177:
2175:
2173:
2171:
2167:
2162:
2158:
2153:
2148:
2144:
2140:
2137:(6): 761–71.
2136:
2132:
2128:
2121:
2118:
2113:
2109:
2104:
2099:
2095:
2091:
2088:(3): 406–12.
2087:
2083:
2079:
2072:
2069:
2064:
2060:
2056:
2052:
2047:
2042:
2038:
2034:
2030:
2022:
2020:
2016:
2011:
2007:
2002:
1997:
1993:
1989:
1985:
1981:
1980:Endocrinology
1977:
1970:
1967:
1962:
1958:
1953:
1948:
1944:
1940:
1937:(2): 134–46.
1936:
1932:
1928:
1921:
1919:
1915:
1910:
1906:
1902:
1898:
1894:
1890:
1886:
1882:
1875:
1872:
1867:
1863:
1859:
1855:
1851:
1847:
1840:
1837:
1832:
1828:
1823:
1818:
1815:(6): 1653–6.
1814:
1810:
1806:
1799:
1796:
1791:
1787:
1783:
1779:
1775:
1771:
1767:
1763:
1756:
1753:
1748:
1744:
1740:
1736:
1732:
1728:
1721:
1718:
1713:
1709:
1705:
1701:
1697:
1693:
1686:
1683:
1678:
1674:
1669:
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1659:
1654:
1650:
1646:
1642:
1635:
1632:
1627:
1623:
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1615:
1611:
1607:
1603:
1599:
1592:
1589:
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1580:
1575:
1570:
1566:
1562:
1558:
1551:
1548:
1543:
1539:
1535:
1531:
1527:
1523:
1520:(1): 115–29.
1519:
1515:
1508:
1505:
1500:
1496:
1491:
1486:
1482:
1478:
1474:
1470:
1466:
1459:
1456:
1451:
1447:
1443:
1439:
1435:
1431:
1427:
1423:
1415:
1413:
1409:
1404:
1400:
1396:
1394:9787811240559
1390:
1386:
1382:
1378:
1371:
1369:
1365:
1360:
1356:
1352:
1348:
1343:
1338:
1334:
1330:
1326:
1319:
1317:
1315:
1313:
1309:
1304:
1300:
1296:
1292:
1287:
1282:
1278:
1274:
1270:
1263:
1261:
1259:
1257:
1255:
1253:
1251:
1249:
1247:
1243:
1238:
1234:
1229:
1224:
1220:
1216:
1212:
1208:
1204:
1197:
1194:
1189:
1185:
1180:
1175:
1171:
1167:
1164:(5): 281–96.
1163:
1159:
1155:
1148:
1145:
1140:
1136:
1132:
1128:
1123:
1118:
1114:
1110:
1106:
1099:
1096:
1091:
1087:
1082:
1077:
1073:
1069:
1064:
1059:
1055:
1051:
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1039:
1036:
1025:
1021:
1015:
1012:
1000:
999:Penn Medicine
996:
990:
987:
982:
978:
971:
969:
965:
958:
954:
951:
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556:menstruation
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432:Pathogenesis
426:
423:Epidemiology
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397:
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381:
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325:labia minora
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263:homo sapiens
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880:(ICSI) and
734:metabolised
710:miscarriage
623:inheritance
357:blastocysts
243:hematometra
179:WNT3, HNF1b
2565:Teratology
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1651:: 108973.
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1029:2018-01-21
1005:2018-01-21
959:References
858:hypoplasia
848:uteri and
846:bicornuate
837:bicornuate
774:conception
712:and other
678:epithelium
572:bicornuate
544:congenital
528:hypoplasia
510:germ cells
444:The human
271:urological
199:phenotypes
195:hypoplasia
1887:: 66–76.
1692:Radiology
1131:1028-4559
1072:2075-4418
850:didelphys
833:didelphys
770:pregnancy
762:infertile
718:teratogen
642:endocrine
619:karyotype
568:didelphys
361:teratogen
312:neovagina
2990:Category
2941:21830244
2900:11699126
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981:Medscape
942:See also
898:estrogen
854:agenesis
738:estrogen
730:placenta
702:estrogen
682:in utero
612:genetics
554:, where
532:agenesis
479:testicle
456:and the
405:in utero
398:in utero
378:In utero
365:placenta
329:hematoma
63:May 2021
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409:uterus
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288:HOXA10
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128:cervix
120:uterus
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