Mayer-Rokitansky-Kuster-Hauser syndrome

(redirected from Mullerian agenesis)
Also found in: Wikipedia.

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 ?
Mullerian agenesis, also called Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH).
An aberration of this process is the root cause of Mullerian agenesis and remnant structures during this migration are perhaps also the pathogenesis of Hattori's cysts [9].
This theory could explain how women with Mullerian agenesis, who completely lack a uterus or have only a hypoplastic uterus, still show incidences of endometriosis [16]; however, it is less supportive than the induction theory.
Mullerian agenesis also named as Mullerian aplasia, Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome or Vaginal agenesis, is a rare condition with an incidence of 1 in 4, 000 to 1 in 10, 000 females.
Anomalies such as Mullerian agenesis or unicornuate uterus are commonly seen in undescended ovary cases.
Mullerian agenesis, also referred to as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, is a rare congenital abnormality that occurs in females and primarily affects the reproductive system.
Inguinal ovaries associated with Mullerian agenesis: case report and review.
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.
Most (27) of the patients had Mullerian agenesis; one patient needed a reconstruction because of previous oncologic surgery.