Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Ver. Summary Created by Modification Content Size Created at Operation
1 + 581 word(s) 581 2020-12-15 07:30:47 |
2 update layout Meta information modification 581 2020-12-23 07:27:09 |

Video Upload Options

Do you have a full video?


Are you sure to Delete?
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, R. Mayer-Rokitansky-Küster-Hauser Syndrome. Encyclopedia. Available online: (accessed on 28 November 2023).
Xu R. Mayer-Rokitansky-Küster-Hauser Syndrome. Encyclopedia. Available at: Accessed November 28, 2023.
Xu, Rita. "Mayer-Rokitansky-Küster-Hauser Syndrome" Encyclopedia, (accessed November 28, 2023).
Xu, R.(2020, December 22). Mayer-Rokitansky-Küster-Hauser Syndrome. In Encyclopedia.
Xu, Rita. "Mayer-Rokitansky-Küster-Hauser Syndrome." Encyclopedia. Web. 22 December, 2020.
Mayer-Rokitansky-Küster-Hauser Syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system.

genetic conditions

1. Introduction

This condition causes the vagina and uterus to be underdeveloped or absent, although external genitalia are normal. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.

When only reproductive organs are affected, the condition is classified as MRKH syndrome type 1. Some women with MRKH syndrome also have abnormalities in other parts of the body; in these cases, the condition is classified as MRKH syndrome type 2. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome type 2 may also have hearing loss or heart defects.

2. Frequency

MRKH syndrome affects approximately 1 in 4,500 newborn girls.

3. Causes

The cause of MRKH syndrome is unknown. Changes in several genes that are involved in development before birth have been identified in females with MRKH syndrome. However, each has been found in only a few affected individuals, and it is unclear whether these changes cause MRKH syndrome. Researchers are working to determine how genetic changes might lead to problems with reproductive system development in females.

The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian duct. This structure in the embryo develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Müllerian duct in affected individuals is unknown. Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified an association with any specific maternal drug use, illness, or other factor. Researchers now suggest that in combination, genetic and environmental factors contribute to the development of MRKH syndrome, although the specific factors are often unknown.

It is also unclear why some affected individuals have abnormalities in parts of the body other than the reproductive system. Certain tissues and organs, such as the kidneys, develop from the same embryonic tissue as the Müllerian duct, and researchers suspect that problems during development could affect these organs as well.

4. Inheritance

Most cases of MRKH syndrome occur in females with no history of the disorder in their family.

Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although the gene involved is usually unknown.

5. Other Names for This Condition

  • congenital absence of the uterus and vagina (CAUV)
  • genital renal ear syndrome (GRES)
  • MRKH syndrome
  • Mullerian agenesis
  • Mullerian aplasia
  • Mullerian dysgenesis
  • Rokitansky Kuster Hauser syndrome
  • Rokitansky syndrome


  1. Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics ofMayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Clin Genet. 2017Feb;91(2):233-246. doi: 10.1111/cge.12883.
  2. Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, DeToffol S, Frontino G, Motta F, Maitz S, Bernardini L, Dallapiccola B, Fedele L,Larizza L, Miozzo M. SHOX duplications found in some cases with type IMayer-Rokitansky-Kuster-Hauser syndrome. Genet Med. 2010 Oct;12(10):634-40. doi: 10.1097/GIM.0b013e3181ed6185.
  3. Herlin M, Højland AT, Petersen MB. Familial occurrence ofMayer-Rokitansky-Küster-Hauser syndrome: a case report and review of theliterature. Am J Med Genet A. 2014 Sep;164A(9):2276-86. doi:10.1002/ajmg.a.36652.
  4. Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P. Frame shiftmutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH)syndrome. Hum Reprod. 2012 Sep;27(9):2872-5. doi: 10.1093/humrep/des206.
  5. Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P. Recurrent aberrations identified by array-CGH in patients withMayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril. 2011 Apr;95(5):1589-94.doi: 10.1016/j.fertnstert.2010.07.1062.
  6. Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes,Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007 Mar 14;2:13. Review.
  7. Pizzo A, Laganà AS, Sturlese E, Retto G, Retto A, De Dominici R, Puzzolo D.Mayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical andsurgical treatment. ISRN Obstet Gynecol. 2013;2013:628717. doi:10.1155/2013/628717.
  8. Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L,Rosenberg C, Aittomäki K. TBX6, LHX1 and copy number variations in the complexgenetics of Müllerian aplasia. Orphanet J Rare Dis. 2013 Aug 16;8:125. doi:10.1186/1750-1172-8-125.
  9. Sultan C, Biason-Lauber A, Philibert P. Mayer-Rokitansky-Kuster-Hausersyndrome: recent clinical and genetic findings. Gynecol Endocrinol. 2009Jan;25(1):8-11. doi: 10.1080/09513590802288291. Review.
  10. Tewes AC, Rall KK, Römer T, Hucke J, Kapczuk K, Brucker S, Wieacker P, LedigS. Variations in RBM8A and TBX6 are associated with disorders of the müllerianducts. Fertil Steril. 2015 May;103(5):1313-8. doi:10.1016/j.fertnstert.2015.02.014.
  11. Wottgen M, Brucker S, Renner SP, Strissel PL, Strick R, Kellermann A,Wallwiener D, Beckmann MW, Oppelt P. Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Küster-Hauser-syndrome patients. Hum Reprod. 2008May;23(5):1226-31. doi: 10.1093/humrep/den059.
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to :
View Times: 393
Entry Collection: MedlinePlus
Revisions: 2 times (View History)
Update Date: 23 Dec 2020