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Mayer Rokitansky Kuster Hauser syndrome type 1(MRKH)

MedGen UID:
1797978
Concept ID:
C5566555
Disease or Syndrome
Synonym: MRKH
SNOMED CT: Mayer Rokitansky Küster Hauser syndrome type 1 (1162832007); MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 (1162832007)
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:0010173
OMIM®: 277000
Orphanet: ORPHA247775

Definition

Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830). [from OMIM]

Clinical features

From HPO
Hematocolpos
MedGen UID:
5482
Concept ID:
C0018934
Disease or Syndrome
Accumulation of blood in the vagina usually due to vaginal obstruction.
Polycystic ovaries
MedGen UID:
10836
Concept ID:
C0032460
Disease or Syndrome
Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Unilateral aplasia of the mullerian ducts
MedGen UID:
78600
Concept ID:
C0266389
Congenital Abnormality
A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Aplasia of the uterus
MedGen UID:
98421
Concept ID:
C0425913
Finding
Aplasia of the uterus.
Aplasia of the vagina
MedGen UID:
330738
Concept ID:
C1841990
Finding
Aplasia of the vagina.
Multicystic kidney dysplasia
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Reduced renal corticomedullary differentiation
MedGen UID:
813461
Concept ID:
C3807131
Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Abnormal female external genitalia morphology
MedGen UID:
867445
Concept ID:
C4021822
Anatomical Abnormality
Any structural abnormality of the female external genitalia.
Aplasia of the upper vagina
MedGen UID:
868394
Concept ID:
C4022788
Anatomical Abnormality
A failure to develop of the upper vagina.
Renal medullary hyperechogenicity
MedGen UID:
1757337
Concept ID:
C5421631
Finding
Increased echogenecity of the medullary region of the kidney.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Layman LC
Mol Cell Endocrinol 2013 May 6;370(1-2):138-48. Epub 2013 Mar 14 doi: 10.1016/j.mce.2013.02.016. PMID: 23499866Free PMC Article
Ruggeri G, Gargano T, Antonellini C, Carlini V, Randi B, Destro F, Lima M
Pediatr Surg Int 2012 Aug;28(8):797-803. doi: 10.1007/s00383-012-3121-7. PMID: 22806600

Recent clinical studies

Therapy

Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Ma W, Li Y, Wang M, Li H, Su T, Li Y, Wang S
PLoS One 2015;10(6):e0130202. Epub 2015 Jun 15 doi: 10.1371/journal.pone.0130202. PMID: 26075712Free PMC Article
Li S, Sun C, Shi B, Li M, Liu L
J Laparoendosc Adv Surg Tech A 2014 May;24(5):354-8. Epub 2014 Jan 17 doi: 10.1089/lap.2013.0158. PMID: 24438220

Prognosis

Mahey R, Rana A, Cheluvaraju R, Vyas S, Raj R, Bhatla N
J Ovarian Res 2023 Feb 23;16(1):43. doi: 10.1186/s13048-022-01067-0. PMID: 36814312Free PMC Article
Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM
Hum Genomics 2022 Mar 31;16(1):10. doi: 10.1186/s40246-022-00385-0. PMID: 35361250Free PMC Article
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
Kapczuk K, Friebe Z, Iwaniec K, Kędzia W
J Pediatr Adolesc Gynecol 2018 Jun;31(3):252-257. Epub 2017 Oct 10 doi: 10.1016/j.jpag.2017.09.013. PMID: 29030159
Kapczuk K, Iwaniec K, Friebe Z, Kędzia W
Eur J Obstet Gynecol Reprod Biol 2016 Dec;207:45-49. Epub 2016 Oct 26 doi: 10.1016/j.ejogrb.2016.10.014. PMID: 27825026

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
Chu C, Li L, Li S, Zhou Q, Zheng P, Zhang YD, Duan AH, Lu D, Wu YM
Hum Genomics 2022 Mar 31;16(1):10. doi: 10.1186/s40246-022-00385-0. PMID: 35361250Free PMC Article
Wang YY, Duan H, Zhang XN, Wang S
J Minim Invasive Gynecol 2021 Jan;28(1):82-92. Epub 2020 Apr 10 doi: 10.1016/j.jmig.2020.04.006. PMID: 32283327
Brännström M, Dahm-Kähler P, Kvarnström N, Akouri R, Rova K, Olausson M, Groth K, Ekberg J, Enskog A, Sheikhi M, Mölne J, Bokström H
Acta Obstet Gynecol Scand 2020 Sep;99(9):1222-1229. Epub 2020 Apr 12 doi: 10.1111/aogs.13853. PMID: 32196630
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396

Recent systematic reviews

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

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