Müllerian aplasia, including Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
MRKH syndrome affects about 1 in 4,500 women.
Absent or underdeveloped uterus and upper vagina with typically normal ovaries, sometimes with kidney or skeletal anomalies, associated with variants in WNT4, TBX6, LHX1, HNF1B and GREB1L.
Mit változtat a diagnózis
A WNT4 diagnosis indicates hyperandrogenism needing management, and associated kidney anomalies warrant renal imaging.
Más néven
aplasia of the Mullerian ducts; aplasia of the Müllerian ducts; Mullerian duct failure; Müllerian duct failure
8 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Mayer-Rokitansky-Kuster-Hauser syndrome
- Mayer-Rokitansky-Kuster-Hauser syndrome type 1
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- mullerian aplasia and hyperandrogenism
- partial bilateral aplasia of the mullerian ducts
- pseudounicornuate uterus
- true unicornuate uterus
- unilateral aplasia of the mullerian ducts
