Mullerian Agenesis

What is Mullerian Agenesis?

Mullerian Agenesis, abbreviated as MA, is a disorder marked by congenital malformation. It is characterized by an inability of the mullerian ducts to develop properly. This leads to an absence of fallopian tubes and uterus as well as a number of deformities in the upper vaginal section.

After Gonadal failure, MA is the second most common reason of Primary amenorrhoea.

What Happens in Mullerian Agenesis?

The uterus usually develops from embryological structures called mullerian ducts when these are unable to develop in utero. In this condition, a baby girl is born without a uterus. If there is no uterus, a woman will not be able to get pregnant and will also be unable to develop any menstrual cycle. This can be emotionally shocking to a woman and can lead to frustration and resentment.

Mullerian Agenesis Symptoms

This condition is hormonally typical. An affected girl usually enters puberty with development of secondary sexual characteristics including an adrenarche. In this condition, the vagina is usually short and intercourse may be difficult and painful. Medical examination shows absence of cervix, uterus and vagina.

Picture of Mullerian Agenesis

Picture 1 – Mullerian Agenesis

Other minor symptoms include:

  • Hearing loss
  • Bone malformations
  • Kidney problems
  • Renal anomalies (in a few cases)

Mullerian Agenesis Causes

MA occurs due to heterozygous mutation of the WNT4 gene on chromosome 1p36. This gene is responsible for the development of:

Image of Mullerian Agenesis

Picture 2 – Mullerian Agenesis Image

  • Paramesonephric duct
  • Cervix
  • Fallopian tubes
  • Ovaries
  • A major portion of the vagina

The absence of this gene leads to either a malformation or an absence of the mullerian duct, which means that the female reproductive organs never develop.

Mullerian Agenesis Diagnosis

The diagnosis for MA is made after radiological or endoscopic examination. General physical examination generally reveals a normal phenotypic woman with well-developed secondary sexual characteristics. Further, vaginal examination either shows a short or absence of vagina. In cases where patients are diagnosed with cyclical abdominal pain, this pain is usually related with the ovarian cycle. Such a pain arises from suppressed menstruation in the rudimentary uterine horns. A monthly record of the basal body temperature with a biphasic pattern and records of time of the pain are very significant elements during detection. Weekly progesterone assays are also used to document ovulation and timing of the pain.

Mullerian Agenesis Treatment

There are no treatments to make the pregnancy possible. Women can have genetic children through IVF with embryotransfer to a gestational carrier. Vaginal dilators or surgery may be done to develop a functioning vagina to allow for penetrative sexual intercourse. In the McIndoe procedure, a skin graft is applied to form an artificial vagina. The dilators are kept even after surgery to prevent vaginal stenosis. The Veccihietti procedure is a laparoscopic procedure which has been shown to result in a vagina that can be compared to a normal vagina in patients suffering from MA. The operation in this procedure lasts about 45 minutes.

Patients with Mullerian agenesis suffer from a deep psychological problem and emotional trauma when they find that they have got no vagina and uterus. The person may suffer from depression, anger and isolation. At this stage, the role of counselors and psychologists is important for the management of these patients.