Mullerian Aplasia is a disorder seen in women characterized by abnormal development of the uterus, cervix, fallopian tubes, and upper vagina, with normal ovarian function and external genitalia. Since the ovary functions normally, secondary sexual characteristics are present in affected women, and the condition goes unnoticed, till the time of puberty. The first presentation of the condition is in the form of primary amenorrhea. In fact, after gonadal dysgenesis, mullerian aplasia is the most common cause for amenorrhea. Other features that may be noticed include abnormalities of the urinary tract, skeletal defects, cardiac abnormalities, and renal defects, such as a missing or a mis-located kidney.
Among researchers, there is a difference of opinion as to whether mullerian aplasia is different from the Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH). It is generally believed that the absence of a rudimentary uterus and normal fallopian tubes differentiates mullerian aplasia from MRKH Syndrome. The primary mode of treatment is through surgical intervention to create adequate vaginal length for coital function. Other treatment plans involve prevention or management of endometriosis. Psychological support to the affected patient and her family is equally important.
Mullerian aplasia is associated with heterozygous mutation in WNT4 (Wnt Family Member 4) gene. WNT4 belongs to the WNT gene family and is known to play an key role in the sex-determination cascade.