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Rokitansky sequence(MRKH)

MedGen UID:
140915
Concept ID:
C0431648
Congenital Abnormality
Synonyms: Mayer Rokitansky Kuster Hauser syndrome type 1; MRKH
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: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

Professional guidelines

PubMed

Miao Y, Wen J, Huang L, Wu J, Zhao Z
Biomed Res Int 2018;2018:2369430. Epub 2018 Mar 12 doi: 10.1155/2018/2369430. PMID: 29721502Free PMC Article
Committee on Adolescent Health Care
Obstet Gynecol 2018 Jan;131(1):e35-e42. doi: 10.1097/AOG.0000000000002458. PMID: 29266078
Nakhal RS, Creighton SM
J Pediatr Adolesc Gynecol 2012 Dec;25(6):352-7. Epub 2011 Aug 27 doi: 10.1016/j.jpag.2011.06.003. PMID: 21872517

Recent clinical studies

Diagnosis

van Bever Y, van den Ende JJ, Richieri-Costa A
Am J Med Genet 1992 Nov 15;44(5):683-90. doi: 10.1002/ajmg.1320440530. PMID: 1481833

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