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.
Khan et al. (2004) reported two sisters with primary amenorrhea associated with pelvic endometriosis due to cervico-vaginal atresia. The first case was a married 19-year old female who presented with primary amenorrhea and episodic lower abdominal pain, but without any coital problems. There was no history suggestive of hypothalamic or pituitary causes. She was of normal body mass index, with well developed secondary sexual characteristics, normal external genitalia, and normal axillary and pubic hair growth. The abdomen was soft with no masses felt. A blind vaginal pouch (3 cm) was seen on speculum examination, with a small uterus felt above it on bimanual examination. Her hormonal profile (FSH, LH, Prolactin and thyroid function) was normal, progesterone was ovulatory (normal hypothalamic-pituitary-ovarian axis) and chromosomal analysis revealed a 46,XX karyotype. On pelvic scan, the uterus was small with endometrial streak (6 mm), and the ovaries were enlarged with endometriotic cysts. There were no associated renal anomalies seen on intravenous pyleography and renal sonography. The patient was examined under anesthesia and laparoscopy revealed normal sized and contoured uterus, with endometriotic spots on its anterior surface, and to its posterior surface, bowl loops were adherent. Both ovaries were enlarged with chocolate cysts that were adherent posteriorly to the mesosalpinx, and Fallopian tubes were stretched. The uterus ended abruptly with no cervix detected. According to the above laparoscopic finding, laparotomy was done with excision of chocolate cysts (endometriotic cysts on histopathology) and reconstruction of the ovaries. After a smooth postoperative period, the couple was counseled regarding the condition and its management. While still awaiting their decision about abdominal hysterectomy, the patient was put on GnRH analogues to stop the endometrium from functioning. The other sister presented at the age of 17 years with primary amenorrhea and her examination and hormonal profile were also normal as her sister's. Enlarged uterus with endometrial streak was evident on pelvic scan and both ovaries were normal. A small blind vaginal dimple was detected on examination under anesthesia, while laparoscopy showed an enlarged uterus with endometriotic spots on its surface, well developed tubes, normal sized ovaries with endometriotic spots on the surface of the right ovary which were cauterized, and no cervix. The excision of the vaginal septum with its recanalization was deferred until marriage of the patient and in the mean while, she was started on GnRH analogue for a short period of time.
[Khan S, Pawar R, Narayan D. Familial congenital cervicovaginal atresia and pelvic endometriosis A rare presentation. Oman Med J. 2004; 19(1):13-5.]