Mayer-Rokitansky-Küster-Hauser, syndrome

(OMIM 158330277000601076)

(Rokitansky syndrome, MURCS association)

Rare: 1/4500 births in girls. Mutation of the Wnt4 gene on 1p35, more rarely: Tcf2 microdeletion on chromosome 4 or LHx on 17q12. Total or partial aplasia of the genital structures derived from the  Mullerian structures (upper 2/3 of vagina and uterus) in a girl or young woman whose karyotype is normal. Sometimes associated with other malformations particularly renal (hypoplasia, aplasia, horseshoe kidney), bone or spinal (scoliosis).

There are two clinical forms:

-        type I: uterine aplasia but normal fallopian tubes; absence of other anomalies

-        type II or MURCS association (MUllerian Renal Cervical Somite): hypoplasia of the uterus with tubal anomalies, and presence of a vaginal cupula; other associated malformations.

Treatment: vaginal surgery.


Anesthetic implications :

check renal function.


Updated: January 2019