Introduction:

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX).

https://doi.org/10.1186/s13023-020-01491-9

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https://www.youtube.com/watch?v=rY3kkhy9HmM

https://doi.org/10.1155/2013/628717

![a The original illustration by Carl von Rokitansky (1838) showing the uterovaginal morphology in MRKH syndrome with a shortened blind-ending vagina and two rudimentary uterine remnants. b A sagittal T2-weighted MRI showing complete uterovaginal absence in type II MRKH syndrome associated with renal agenesis and a solitary pelvic kidney. c The pelvis of a patient with MRKH syndrome during surgical preparation for uterus transplantation. The forceps is holding the fibrous uterine rudiment in the midline, while it is dissected free from the bladder. On the uterine buds, located on the pelvic sidewalls, small subserosal leiomyomas are seen on both sides. The ovaries are located medially towards the Pouch of Douglas

Herlin, M.K., Petersen, M.B. & Brännström, M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis 15, 214 (2020). https://doi.org/10.1186/s13023-020-01491-9](attachment:67c9df6e-7436-4c65-aed2-8762a18e1d25:13023_2020_1491_Fig1_HTML.webp)

a The original illustration by Carl von Rokitansky (1838) showing the uterovaginal morphology in MRKH syndrome with a shortened blind-ending vagina and two rudimentary uterine remnants. b A sagittal T2-weighted MRI showing complete uterovaginal absence in type II MRKH syndrome associated with renal agenesis and a solitary pelvic kidney. c The pelvis of a patient with MRKH syndrome during surgical preparation for uterus transplantation. The forceps is holding the fibrous uterine rudiment in the midline, while it is dissected free from the bladder. On the uterine buds, located on the pelvic sidewalls, small subserosal leiomyomas are seen on both sides. The ovaries are located medially towards the Pouch of Douglas

Radiology

https://doi.org/10.1186/s13244-024-01879-2

https://doi.org/10.3348/kjr.2013.14.2.233

https://austinpublishinggroup.com/radiology/fulltext/ajr-v4-id1067.php

https://www.jcdr.net/ReadXMLFile.aspx?id=10317

![Diagrammatic representation and imaging features of Mullerian agenesis. 4.1: Diagrammatic representation of variants of Mullerian agenesis. 4.2: MRKH syndrome type 1: (a) USG pelvis of a 17-year-old girl 46XX karyotype in the transverse plane reveals an ovoid hypoechoic structure posterior to the urinary bladder with poor zonal anatomy (arrow) suggesting the possibility of a hypoplastic uterus. Sagittal T2W MR image (b) reveals a small hypointense linear structure posterior to the bladder in the expected location of the uterus (arrow). The sagittal image obtained after partially emptying the bladder (c) better depicts the rudimentary zonal anatomy confirming the presence of a hypoplastic uterus (thick arrow). Also, note the vagina seen as a linear hyperintensity between the bladder and rectum (thin arrow). T2W coronal image (d) of the upper abdomen reveals both kidneys to be normal

Dixit, R., Duggireddy, C.S. & Pradhan, G.S. Mullerian anomalies: revisiting imaging and classification. Insights Imaging 16, 40 (2025). https://doi.org/10.1186/s13244-024-01879-2](attachment:47b3d52e-dcdb-4395-b0bf-b395c4b75b19:13244_2024_1879_Fig4_HTML.webp)

Diagrammatic representation and imaging features of Mullerian agenesis. 4.1: Diagrammatic representation of variants of Mullerian agenesis. 4.2: MRKH syndrome type 1: (a) USG pelvis of a 17-year-old girl 46XX karyotype in the transverse plane reveals an ovoid hypoechoic structure posterior to the urinary bladder with poor zonal anatomy (arrow) suggesting the possibility of a hypoplastic uterus. Sagittal T2W MR image (b) reveals a small hypointense linear structure posterior to the bladder in the expected location of the uterus (arrow). The sagittal image obtained after partially emptying the bladder (c) better depicts the rudimentary zonal anatomy confirming the presence of a hypoplastic uterus (thick arrow). Also, note the vagina seen as a linear hyperintensity between the bladder and rectum (thin arrow). T2W coronal image (d) of the upper abdomen reveals both kidneys to be normal

Dixit, R., Duggireddy, C.S. & Pradhan, G.S. Mullerian anomalies: revisiting imaging and classification. Insights Imaging 16, 40 (2025). https://doi.org/10.1186/s13244-024-01879-2

![MRKH syndrome in 18-year-old woman. A, B. Bilateral uterine buds (A, B: thick arrows) are connected only with fibrous band-like structures (B: arrowheads) on transverse T2WI. Prominent cavitation (B: thin arrow) is noted in right uterine bud. C. Coronal T2WI shows bilateral normal ovaries (thick arrows) abutting uterine buds (thin arrows) at superior aspect. MRKH = Mayer-Rokitansky-Küster-Hauser, T2WI = T2-weighted image

Yoo RE, Cho JY, Kim SY, Kim SH. Magnetic Resonance Evaluation of Müllerian Remnants in Mayer-Rokitansky-Küster-Hauser Syndrome. Korean J Radiol. 2013 Mar-Apr;14(2):233-239. https://doi.org/10.3348/kjr.2013.14.2.233](attachment:6f86a41e-79a5-4fcd-9c35-c1b5bb894d03:kjr-14-233-g002-l.jpg)

MRKH syndrome in 18-year-old woman. A, B. Bilateral uterine buds (A, B: thick arrows) are connected only with fibrous band-like structures (B: arrowheads) on transverse T2WI. Prominent cavitation (B: thin arrow) is noted in right uterine bud. C. Coronal T2WI shows bilateral normal ovaries (thick arrows) abutting uterine buds (thin arrows) at superior aspect. MRKH = Mayer-Rokitansky-Küster-Hauser, T2WI = T2-weighted image

Further reading:

https://www.ijcasereportsandimages.com/archive/article-full-text/101294Z01RT2022

https://doi.org/10.1186/s43055-023-01015-y

https://doi.org/10.1186/s43055-022-00704-4

https://doi.org/10.2147/IJWH.S75637

https://doi.org/10.1186/s10397-020-01079-y