Mayer-Rokitansky-Kuster-Hauser syndrome


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. Synonym(s): müllerian agenesis, Rokitansky-Küster-Hauser disease, Rokitansky-Küster-Hauser syndrome

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, PaulRokitansky-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, PaulRokitansky-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 stainMayer mucihematein stainMayer-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, PaulRokitansky disease - (1) Synonym(s): acute yellow atrophy of the liver - (2) Chiari syndromeRokitansky diverticulumRokitansky hernia - separation of the muscular fibers of the bowel allowing protrusion of a sac of the mucous membrane.Rokitansky kidneyRokitansky pelvis - Synonym(s): spondylolisthetic pelvisRokitansky tumorRokitansky-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