Mayer-Rokitansky-Kuster-Hauser syndrome


Also found in: Acronyms.

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 ?
Mayer-Rokitansky-Kuster-Hauser Syndrome with imperforate anus: A rare association and an innovative surgical management.
Atypical Mayer-Rokitansky-Kuster-Hauser Syndrome with scoliosis, renal and anorectal malformation-Case report.
Development of leiomyomas on the uterine remnants of two women with Mayer-Rokitansky-Kuster-Hauser syndrome.
We present a case of Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed at Infanta Cristina Hospital in Madrid, Spain.
Magnetic resonance imaging in Mayer-Rokitansky-Kuster-Hauser syndrome.
This new method for correcting the defects associated with Mayer-Rokitansky-Kuster-Hauser syndrome is investigational but shows great promise, he said, noting that it has several advantages over the split-thickness skin graft approach.
Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome.
Keywords: Mllerian agenesis, Vaginal atresia, Uterine agenesis, Mayer-Rokitansky-Kuster-Hauser syndrome.
Uterine leiomyoma in a patient suffering from Mayer-Rokitansky-Kuster-Hauser syndrome.
A new laparoscopic procedure for creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome.
Simplifying ovulation induction for surrogacy in women with Mayer-Rokitansky-Kuster-Hauser syndrome.
Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature.