The Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches.

ABSTRACT: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetra

SUBMITTER: Guerrier D 

PROVIDER: S-EPMC1368996 | biostudies-literature | 2006 Jan

REPOSITORIES: biostudies-literature