Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)

“…Recent studies report the absence of WNT4 gene mutation (8)(9)(10), but this is probably because patients without clinical or biologic evidence of hyperandrogenism were recruited. In a recent review (11), we revisited the classification of MRKH syndrome and the wide spectrum of MRKH subtypes.…”

Mullerian dysgenesis: a critical review of the literature

“…Moreover, sequencing of the WNT4 gene in 19 MRKH patients reinforced the notion that Wnt4 mutations leads to an MRKH-like syndrome associated with hyperandrogenism, which might be a distinct clinical and genetic entity from MRKH syndrome [65,67,68]. Additional studies involving mutational analysis of the WNT4 gene in women with MRKH syndrome have reached similar conclusions and exclude WNT4 as a major gene responsible for MRKH without virilization [36,59,67,69].…”

Mayer-Rokitansky-K

“…Moreover genetic alterations, which affect embryological profile, contribute highly to its determination and recent studies investigate genetic mutations during the early phases of the embryonic development. Some genes like the wingless-type MMTV integration site family member 4 (WNT4) seems surely to be involved, since it plays important role on embryonic female genital development with specific function (10,13,14). There have been several assumptions about other involved genes such as Wilms tumor 1 (WT1), PAX2 (thought that the WT1 oncosuppresor may act as repressor of thee transcription of PAX 2), HOXA7-HOXA13 (very important genetic clusters for the correct embryogenesis and pre-B-cell leukemia homebox 1 (PBX1) (15).…”