Mullerian agenesis refers to a condition in a female where the mullerian ducts fail to develop and a uterus will not be present. Primary amenorrhea is a leading symptom. more...
Signs and symptoms
A woman with this condition is hormonally normal, that is she will enter puberty with development of secondary sexual characteristics including thelarche and adrenarche. Her chromosome constellation will be 46,XX. Ovulation usually occurs. Typically the vagina is shortened and intercourse will be difficult and painful. Medical examination supported by gynecologic ultrasonography demonstrates vaginal and uterine absence.
The estimated prevalence is 1:5000. A genetic cause is likely (see OMIM).
It may be necessary to use vaginal dilators or surgery to develop a functioning vagina to allow for satisfactory sexual intercourse. Women with this condition can have children through IVF with embryo transfer to a gestational carrier.
The condition is also called Mayer-Rokitansky-Küstner-Hauser (MRKH) Syndrome, named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küster, and G.A.Hauser.
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