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Mayer-Rokitansky-Kuster-Hauser syndrome(CAUV)

MedGen UID:
140915
Concept ID:
C0431648
Disease or Syndrome
Synonyms: CAUV; CONGENITAL ABSENCE OF UTERUS AND VAGINA; MULLERIAN APLASIA/DYSGENESIS; Rokitansky sequence
SNOMED CT: Rokitansky sequence (8793008); Congenital absence of uterus and vagina (8793008); Mayer-Rokitansky-Kuster syndrome (8793008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017771
OMIM®: 277000
Orphanet: ORPHA3109

Definition

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that mainly affects the female reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent, although external genitalia are normal. Affected individuals usually do not have menstrual periods due to the absence of a uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). People with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal breast and pubic hair development. Although people 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 individuals 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). People with MRKH syndrome type 2 may also have hearing loss or heart defects. [from MedlinePlus Genetics]

Term Hierarchy

Professional guidelines

PubMed

Tian W, Chen N, Liang Z, Song S, Wang Y, Ye Y, Duan J, Zhu L
Gynecol Obstet Invest 2021;86(6):518-524. Epub 2021 Nov 4 doi: 10.1159/000520593. PMID: 34736265
Ng K, Ip PNP, Yiu KW, Chung JPW, Chan SSC
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Bombard DS 2nd, Mousa SA
Gynecol Endocrinol 2014 Sep;30(9):618-23. Epub 2014 Jun 20 doi: 10.3109/09513590.2014.927855. PMID: 24948340

Curated

Morcel K, Dallapiccola B, Pasquier L, Watrin T, Bernardini L, Guerrier D
Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Sep 7 doi: 10.1038/ejhg.2011.158. PMID: 21897448Free PMC Article

Recent clinical studies

Etiology

Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Shao S, Wang X, Lei X, Hua K, Zhang Y
Int Urogynecol J 2022 Mar;33(3):723-729. Epub 2022 Jan 14 doi: 10.1007/s00192-022-05075-y. PMID: 35029720Free PMC Article
Brander EPA, Dietrich JE
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Piazza MJ
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Williams LS, Demir Eksi D, Shen Y, Lossie AC, Chorich LP, Sullivan ME, Phillips JA 3rd, Erman M, Kim HG, Alper OM, Layman LC
Fertil Steril 2017 Jul;108(1):145-151.e2. Epub 2017 Jun 7 doi: 10.1016/j.fertnstert.2017.05.017. PMID: 28600106Free PMC Article

Diagnosis

Rashid MU, Hossain MA, Mondal E, Chanda PK, Hasan M, Al-Amin M, Kamrul-Hasan AB
Mymensingh Med J 2024 Jul;33(3):932-935. PMID: 38944743
Chen N, Song S, Bao X, Zhu L
Front Med 2022 Dec;16(6):859-872. Epub 2022 Dec 23 doi: 10.1007/s11684-022-0969-3. PMID: 36562950
Liszewska-Kapłon M, Strózik M, Kotarski Ł, Bagłaj M, Hirnle L
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Thomas E, Shetty S, Kapoor N, Paul TV
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Adil R, Qayyum A
J Ayub Med Coll Abbottabad 2013 Jan-Jun;25(1-2):208-9. PMID: 25098098

Therapy

Baby A, Pallam MC, Hayter M
J Adv Nurs 2024 Jun;80(6):2167-2201. Epub 2023 Nov 22 doi: 10.1111/jan.15976. PMID: 37994266
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J Pediatr Adolesc Gynecol 2013 Jun;26(3):199-202. doi: 10.1016/j.jpag.2012.11.014. PMID: 23785713

Prognosis

Scollo P, Scibilia G, Vento ME, Borzì P, Veroux P, Mereu L, Pecorino B
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Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Oppelt PG, Müller A, Stephan L, Dittrich R, Lermann J, Büttner C, Ekici AB, Conzelmann G, Seeger H, Schöller D, Rall K, Beckmann MW, Strissel PL, Brucker SY, Strick R
Reproduction 2017 May;153(5):555-563. Epub 2017 Feb 28 doi: 10.1530/REP-16-0408. PMID: 28246310
Zhao X, Wang R, Wang Y, Li L, Zhang H, Kang S
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Clinical prediction guides

Sueters J, Groenman FA, Bouman MB, Roovers JPW, de Vries R, Smit TH, Huirne JAF
Tissue Eng Part B Rev 2023 Feb;29(1):28-46. Epub 2022 Sep 7 doi: 10.1089/ten.TEB.2022.0067. PMID: 35819292
Shao S, Wang X, Lei X, Hua K, Zhang Y
Int Urogynecol J 2022 Mar;33(3):723-729. Epub 2022 Jan 14 doi: 10.1007/s00192-022-05075-y. PMID: 35029720Free PMC Article
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA 3rd, Friez M, Layman LC
Hum Genet 2021 Apr;140(4):667-680. Epub 2021 Jan 19 doi: 10.1007/s00439-020-02239-y. PMID: 33469725Free PMC Article
Liang G, Xia W, Liang Y, Zhu Q, Zou L, Zhang J, Jiang H
Fertil Steril 2021 Feb;115(2):525-527. Epub 2020 Oct 14 doi: 10.1016/j.fertnstert.2020.08.1433. PMID: 33069370
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043

Recent systematic reviews

Baby A, Pallam MC, Hayter M
J Adv Nurs 2024 Jun;80(6):2167-2201. Epub 2023 Nov 22 doi: 10.1111/jan.15976. PMID: 37994266
HadaviBavili P, İlçioğlu K, Hamlacı Başkaya Y
J Minim Invasive Gynecol 2023 Sep;30(9):705-715. Epub 2023 Jun 2 doi: 10.1016/j.jmig.2023.05.014. PMID: 37271411
Facchin F, Francini F, Ravani S, Restelli E, Gramegna MG, Vercellini P, Aimi G
J Health Psychol 2021 Jan;26(1):26-39. Epub 2020 Jan 21 doi: 10.1177/1359105319901308. PMID: 31960723
Wagner A, Brucker SY, Ueding E, Gröber-Grätz D, Simoes E, Rall K, Kronenthaler A, Schäffeler N, Rieger MA
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Friedler S, Grin L, Liberti G, Saar-Ryss B, Rabinson Y, Meltzer S
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Supplemental Content

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    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • EuroGenetest, 2011
      Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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