Females with Mullerian agenesis do not menstruate until their teens (amenorrhea). Female growth normally leads to puberty.

Mullerian agenesis features:

• The genitalia look normal;
• The vagina may be truncated or nonexistent, with only a tiny depression where the opening would be;
• No or partially formed uterus;
• Monthly cramps and chronic abdominal pain;
• Full-grown, functional ovaries may be in an unexpected location in the abdomen;
• Fallopian tubes are sometimes lacking or do not mature normally.

May be linked to:

• Kidney and urinary tract problems;
• Problems with spine, ribs, and wrist bones development;
• Hearing problems;
• Other cardiac, GI, and limb congenital conditions.

Diagnosis relies on the detection of classic signs, the compilation of a comprehensive patient history, an exhaustive clinical evaluation, and the results of many specialized tests, including imaging techniques.

The first test must be transabdominal ultrasonography. It might be used with magnetic resonance imaging (MRI). The uterus and vagina can be seen on an ultrasound. It can also be used to check how the kidneys are working.

Karyotyping can be used to rule out other health problems. With karyotyping, the chromosomes in a group of cells are looked at. The karyotype of women with MRKH syndrome is a normal 46, XX. 

Treatment

Self-dilation

Self-dilation is usually recommended as the first choice. Self-dilation is an alternative to surgical vaginal enlargement. The goal is to make the vagina long enough so that it can be used for sexual activity.

Self-dilation involves pressing a small, round rod (dilator) on the skin for 10 to 30 minutes, once to three times daily. This dilator resembles a hard tampon and is used in the same way. As time goes on, you switch to dilators that are bigger. It could take a few months to get the result you want. 

Surgery

When self-dilation fails, vaginoplasty—surgery to reconstruct a vagina. Different kinds of vaginoplasty surgery are:

• Using a graft of tissue. To make a vagina, your doctor may use a variety of grafts made from your own tissue. Skin from the outside of the thigh, the buttocks, or the lower abdomen could be used.
• Putting in a medical traction device. At the opening of your uterus, your doctor puts an olive-shaped device (Vecchietti procedure) or a balloon device (balloon vaginoplasty). The surgeon connects the device to a separate traction device on your lower abdomen or through your navel. This is done with the help of a thin, lighted viewing tool called a laparoscope.
• Using a section of your colon (bowel vaginoplasty). A part of your colon is moved to an opening in your genital area. This makes a new vagina. Then, your surgeon puts your remaining colon back together.

Unfortunately, Mullerian agenesis is unpreventable. But it may be best to seek advice from a counselor in dealing with the problem of having an incomplete vagina and especially when dealing with a potential life partner.

References

American College of Obstetrics and Gynecologist (2022). Müllerian Agenesis: Diagnosis, Management, and Treatment. Retrieved November 25, 2022, from https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/01/mullerian-agenesis-diagnosis-management-and-treatment

Mayo Clinic (2022). Vaginal Agenesis. Retrieved November 25, 2022, from https://www.mayoclinic.org/diseases-conditions/vaginal-agenesis/diagnosis-treatment/drc-20355741

National Organization for Rare Disorders, Inc. (2022 Mayer-Rokitansky-Küster-Hauser Syndrome. Retrieved November 25, 2022, from https://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/