Mayer-Rokitansky-Kuster-Hauser syndrome

(redirected from MRKH 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.

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 ?
Empire Theatre, Lime Street, Liverpool, 0844 871 3017 - Thu, May 16 - Sat, 18 May The Secret Circus - Let's Talk About Sex Let's celebrate our individuality and diversity by respecting and embracing the topics of consent and LGBTOI+ sex ed lessons with; a trans comedian talking about their sex positive femme journey, Beija Flo singing and spreading the word about MRKH syndrome, Diva Hollywood with her Drag King act, Titsalina Bumsquash (the name says it all!) and comedian Josh McAuley.
Summary: MRKH syndrome affects approximately 1 in 5,000 newborn girls
She presented a case of Turner syndrome with co-existing MRKH Syndrome. The 19 year old female presented with short stature and primary amenorrhea and during the work up turner plus MRKH was diagnosed.
The patient was previously diagnosed with sacral agenesis, with only 4 lumbar vertebrae, which is associated with MRKH syndrome [3, 8].
Kaylee Moates from Arizona who was born without a vagina because of a rare co-genital abnormality known as the Mayer-Rokitansky-KAaAaAeA ster-Haus or the MRKH syndrome has finally stepped forward to talk about her condition and raise funds for a reassignment surgery. 
MRKH syndrome is a congenital abnormality, characterised by the absence of the vagina, cervix and the uterus.
(5) We report a case of sliding inguinal herniation of ovary & fallopian tube with torsion of the right ovarian cyst in a 20 year old woman with MRKH syndrome type I.
Karyotyping verified the 46 XX pattern, thus confirming the MRKH syndrome as a cause of the primary amenorrhea.
Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies.
Type I MRKH syndrome is characterised by the absence of the proximal two-thirds of the vagina and the uterus, while type II affects additional parts of the body.
Mullarian agenesis, commonly referred to as MRKH syndrome, is a rare disorder, which was first reported in the 1830s.1 It is a congenital malformation of the female genital tract characterized by the absence of the vagina and a variety of Mullerian duct anomalies, with absence of the uterus being the most common.