Mayer-Rokitansky-Küster-Hauser, syndrome
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(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