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Description
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that causes the vagina and uterus to be underdeveloped or absent. Without a uterus, affected women do not have menstrual periods. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 15 (primary amenorrhea).
Girls and women with MRKH syndrome have a 46,XX chromosome pattern. They have normal external genitalia and functioning ovaries. They also have normal breast and pubic hair development. Although women with this condition are unable to carry a pregnancy, they may be able to have children with the help of assisted reproductive technologies or a uterus transplant.
MRKH syndrome is often divided into two types. MRKH syndrome type 1 affects only the reproductive organs. MRKH syndrome type 2 also affects other parts of the body. In this form of the condition, the kidneys
may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Additionally, hearing loss, heart defects, or skeletal abnormalities, particularly of the spinal bones (vertebrae
), can occur in those with MRKH syndrome type 2.
Frequency
MRKH syndrome affects approximately 1 in 4,500 female newborns.
Causes
The cause of MRKH syndrome is unknown. Changes in several genes that are involved in development before birth have been identified in girls and women with MRKH syndrome. However, these genetic changes have been found in only a small number of affected people, and it is unclear whether they actually cause MRKH syndrome. Researchers are working to determine how genetic changes could lead to problems with the development of the female reproductive system.
The features of MRKH syndrome are due to incomplete development of the Müllerian duct. This is a structure in the embryo that develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the incomplete development of the Müllerian duct 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 a clear association between MRKH syndrome and any specific environmental factors. Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown.
It is also unclear why some girls and women with MRKH syndrome 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.
Inheritance
Most cases of MRKH syndrome occur in girls and women 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 girls and women 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 an altered gene in each cell is typically sufficient to cause the disorder, although it is often unclear which gene is involved in individual cases of MRKH syndrome.
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
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Cooper N, Al-Memar M, Linton-Reid K, Edmonds K, Rose G, Dixon N, McNamara C, Fotopoulou C, Ree KV, Bharwani N. Magnetic resonance imaging and clinical features of Mayer-Rokitansky-Kuster-Hauser syndrome: A 10-year review from a dedicated specialist centre. BJOG. 2025 Jan;132(1):64-71. doi: 10.1111/1471-0528.17928. Epub 2024 Aug 12. Citation on PubMed
- Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Clin Genet. 2017 Feb;91(2):233-246. doi: 10.1111/cge.12883. Epub 2016 Nov 16. Citation on PubMed
- Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, De Toffol 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 I Mayer-Rokitansky-Kuster-Hauser syndrome. Genet Med. 2010 Oct;12(10):634-40. doi: 10.1097/GIM.0b013e3181ed6185. Citation on PubMed
- Gilfillan R, Carter P. Issues of identity, perceptions and isolation: An interpretative phenomenological analysis of women's experience of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. J Health Psychol. 2024 Mar;29(3):200-212. doi: 10.1177/13591053231199253. Epub 2023 Sep 28. Citation on PubMed
- Herlin MK, Petersen MB, Brannstrom M. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. Citation on PubMed
- Herlin MK. Genetics of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: advancements and implications. Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. doi: 10.3389/fendo.2024.1368990. eCollection 2024. Citation on PubMed
- Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P. Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Hum Reprod. 2012 Sep;27(9):2872-5. doi: 10.1093/humrep/des206. Epub 2012 Jun 26. Citation on PubMed
- Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Mulleriennes; Guerrier D. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007 Mar 14;2:13. doi: 10.1186/1750-1172-2-13. Citation on PubMed or Free article on PubMed Central
- Sandbacka M, Laivuori H, Freitas E, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomaki K. TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia. Orphanet J Rare Dis. 2013 Aug 16;8:125. doi: 10.1186/1750-1172-8-125. Citation on PubMed or Free article on PubMed Central
- Sousa C, Carton I, Jaillard S, Cospain A, Lavillaureix A, Nyangoh Timoh K, Juricic M, Lavoue V, Dion L. Mayer-Rokitansky-Kuster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation. J Gynecol Obstet Hum Reprod. 2023 Dec;52(10):102674. doi: 10.1016/j.jogoh.2023.102674. Epub 2023 Oct 5. Citation on PubMed
- Tewes AC, Rall KK, Romer T, Hucke J, Kapczuk K, Brucker S, Wieacker P, Ledig S. Variations in RBM8A and TBX6 are associated with disorders of the mullerian ducts. Fertil Steril. 2015 May;103(5):1313-8. doi: 10.1016/j.fertnstert.2015.02.014. Epub 2015 Mar 23. Citation on PubMed
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