Mayer-Rokitansky-Kuster-Hauser syndrome

(redirected from Mullerian agenesis)
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May·er-Ro·ki·tan·sky-Küs·ter-Hau·ser syn·drome

(mī'yĕr rō-kĭ-ton'skē kēs'tĕr hoyz'er),
primary amenorrhea due to müllerian duct agenesis, resulting in absence of the vagina, or presence of a short vaginal pouch, and absence of the uterus with normal karyotype and ovaries.

Mayer-Rokitansky-Kuster-Hauser syndrome

A female-limited, autosomal dominant embryopathy (OMIM:277000) characterised by impaired müllerian duct differentiation, resulting in a rudimentary and cordlike uterus and vaginal agenesis with normal ovaries and normal femininising puberty, as well as primary amenorrhoea due to müllerian duct agenesis due to the defective uterus.

Frequency
1:5000 live female births.

Molecular pathology
LHX1, which encodes a homeobox transcription factor that plays a key role in the development of the renal and urogenital systems, is a candidate gene for Mayer-Rokitansky-Kuster-Hauser syndrome.

Hauser,

G.A., 20th century German gynecologist.
Mayer-Rokitansky-Küster-Hauser syndrome - see under Mayer, Paul
Rokitansky-Küster-Hauser syndrome - Synonym(s): Mayer-Rokitansky-Küster-Hauser syndrome

Küster,

Herman, early 20th century German gynecologist.
Mayer-Rokitansky-Küster-Hauser syndrome - see under Mayer, Paul
Rokitansky-Küster-Hauser syndrome - Synonym(s): Mayer-Rokitansky-Küster-Hauser syndrome

Mayer,

Paul, German histologist, 1848-1923.
Mayer hemalum stain - a progressive nuclear stain also used as a counterstain.
Mayer mucicarmine stain
Mayer mucihematein stain
Mayer-Rokitansky-Küster-Hauser syndrome - congenital absence of the vagina. Synonym(s): Rokitansky-Küster-Hauser syndrome

Rokitansky,

Karl Freiherr von, Austrian pathologist, 1804-1878.
Mayer-Rokitansky-Küster-Hauser syndrome - see under Mayer, Paul
Rokitansky disease - (1) Synonym(s): acute yellow atrophy of the liver - (2) Chiari syndrome
Rokitansky diverticulum
Rokitansky hernia - separation of the muscular fibers of the bowel allowing protrusion of a sac of the mucous membrane.
Rokitansky kidney
Rokitansky pelvis - Synonym(s): spondylolisthetic pelvis
Rokitansky tumor
Rokitansky-Aschoff sinuses - small outpocketings of the mucosa of the gallbladder which extend through the muscular layer.
Rokitansky-Küster-Hauser syndrome - Synonym(s): Mayer-Rokitansky-Küster-Hauser syndrome
References in periodicals archive ?
Results: A total of 19 patients were diagnosed with Mullerian agenesis and underwent vaginal reconstruction by Mclndoe technique with minor modification.
Anomalies such as Mullerian agenesis or unicornuate uterus are commonly seen in undescended ovary cases.
We conducted a search through Medline, Pubmed, focusing mainly on endocrinological abnormalities in MRKH syndrome (without specifying language) from 1966 through may 2009 using the combination search words (Mayer - Rokitansky - Kuster - Hauser syndrome or Mullerian agenesis or vaginal atresia or Rokitansky syndrome) and (goiter or prolactin or hirsutism or androgen) each time.
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.
The doctor referred her for hospital tests, which found Cheryl had a congenital condition called Mullerian Agenesis or MRKH which affects one in 5,000 women.
Some cases of apparent imperforate hymen are actually mullerian agenesis, and that possibility should be in the differential diagnosis, David M.
The differential diagnoses include imperforate hymen, transverse vaginal septum, cervical atresia or absence, or mullerian agenesis.
INTRODUCTION: Mullerian agenesis is a rare but crippling anomaly; its incidence varies from 1: 4000 to 1:10000.
Women with mullerian agenesis have normal 46XX chromosomes, normal external genitalia, normal ovarian function, and normal thelarche and pubarche.
Mullerian agenesis is the second most common condition usually diagnosed during work up for primary amenorrhea.
of cases Percentage 1 Normal pelvic organ 66 66 2 T ubal blockage with adhesion 11 11 3 Tubal blockage without adhesion 7 7 4 Tubal patency with adhesion 7 7 5 Endometriosis 2 2 6 PCOD 3 3 7 Bicornuate uterus 2 2 8 Mullerian agenesis 2 2