Uterine agenesis

Last revised by Jeremy Jones on 20 Sep 2021

Uterine agenesis is the extreme of Mullerian duct anomalies (Class I) where there is a complete absence of uterine tissue above the vagina. 

The uterine agenesis-hypoplasia spectrum accounts for ~10-15% of all Müllerian duct anomalies.

Clinical presentation is characterized by primary amenorrhea, with normal hormonal levels guaranteed by fully functional gonads.

The complete absence of the Mullerian ducts is termed Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome which includes the absence of the upper 2/3 of the vagina as well. 

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