Copyright 2010
Definition
Mullerian Agenesis is a congenital anomaly of the female reproductive tract caused by complete agenesis of both mullerian ducts during embryonic development.
The result is an affected woman with ovaries and a shortened vagina, but no uterus or fallopian tubes. This condition is sometimes accompanied by congenital abnormalities of the kidneys or urinary tract.
The structural changes are characterized by complete absence of the uterus and fallopian tubes with normal ovaries. The vagina may be shortened or absent.
The functional changes are characterized by a total absence of menstruation. Hormonal development and ovulation are normal, but pregnancy is impossible due to the absence of the uterus.
As a result women present clinically as young adults, never having had menses. This condition is referred to primary amenorrhea.
Imaging modalities used to evaluate primary amenorrhea include pelvic ultrasound, and MRI. MRI is useful as it allows for concurrent evaluation of the urinary tract.
Diagnosis is made with these imaging studies, combined with a genetic karyotype to rule out other causes of primary amenorrhea.
No treatment is required for the women, but coexisting renal abnormalities must be ruled out. Biological children are only possible for these women through a surrogate.
This can be unilateral or bilateral ; Complete agenesis or uterine aplasia or hypoplasia occurs with complete or partial bilateral mullerian agenesis. The complete Mullerian agenesis is called as Mayer-Rokitansky-Küster-Hauser. It is surgically correctable depending on the extent of agenesis.
Unilateral agenesis of Mullerian system results in unicornuate uterus this could give rise to infertility or recurrent abortions.