Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital absence or underdevelopment of the uterus and vagina. Patients with MRKH syndrome cannot have vaginal intercourse, get pregnant and give birth to a child. However, modern medicine offers a chance for a successful sex life and even for motherhood. What are the causes and symptoms of Mayer-Rokitansky-Küster-Hauser syndrome? What is the treatment?

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)is a malformation syndrome whose main feature is the absence or underdevelopment of the uterus and vagina. It occurs in 1 in 4,000-10,000 girls born.

What are the causes of the Mayer-Rokitansky-Küster-Hauser syndrome?

The Mayer-Rokitansky-Küster-Hauser syndrome develops between 8 and 10 weeks of gestation. Its cause may bedeficiency of progesterone and / or estrogen receptors in the Müller's perirenal ducts(these ducts develop in utero in utero and the vagina) or inhibition of their development by a teratogenic factor, i.e. the causative agent of the fetal malformation (it may be, for example, alcohol, smoking). Some specialists indicate a genetic mutation as the cause.

Mayer-Rokitansky-Küster-Hauser syndrome is usually diagnosed in adolescence. The amenorrhea in girls over the age of 16 should pay attention.

What are the symptoms of Mayer-Rokitansky-Küster-Hauser syndrome?

Mayer-Rokitansky-Küster-Hauser syndromeis characterized by a congenital absence or underdevelopment of the uterus and vagina. However, the structure of the fallopian tubes is normal and the ovaries fulfill their function (classic type 1 of MRKH syndrome). Therefore, puberty in girls with MRKH syndrome is almost normal - breasts, pubic and axillary hair develop, the female body shape is shaped.

However, amenorrhea is observed. Other symptoms of Mayer-Rokitansky-Küster-Hauser syndrome include:

  • Inability to have vaginal intercourse
  • inability to get pregnant and have a baby,
  • little girls may complain of cyclical pains in the lower abdomen.

In more than 1/3 of patients with MRKH syndromehaveother malformations- fallopian tubes and urinary tract (type 2 non-classical) or kidney abnormalities, defects of the skeleton, heart and large vessels, muscle weakness, hearing loss (type MURCS).

Read also: SURFACE - a congenital defect of the UREATH

How to diagnose the Mayer-Rokitansky-Küster-Hauser syndrome?

Patients with the Mayer-Rokitansky-Küster-Hauser syndrome go to the gynecologist most often due to the lack of menstruation, which should have already appeared properly. However, not every doctor makes an accurate diagnosis right away. He may find that the cause of the shoulder of menstruation is an endocrine disruption and prescribe a course of hormone therapy. Only when this does not bring results, the patient goes to other specialists.

If the Mayer-Rokitansky-Küster-Hauser syndrome is suspected,gynecological and imaging tests are performed:

  • ultrasound of the pelvis and the abdominal cavity,
  • urography,
  • pelvic magnetic resonance imaging,
  • X-ray of the spine.

Read also: What is non-invasive prenatal testing and when is it worth doing?

How to treat Mayer-Rokitansky-Küster-Hauser syndrome?

In a patient with MRKH syndrome, an artificial vagina can be createdto enable her intercourse . If vaginal recess is preserved, it can be stretched and elongated mechanically, which usually takes many months.

The operation to create an artificial vagina is performed by specialists from the Gynecology Clinic of the Medical University of Karol Marcinkowski in Poznań.

However, if the vaginal remains are not preserved, it can be produced surgically. The operation consists in making an incision in the mucosa where the entrance to the vagina should be. Then the tissues are dissected, creating a tunnel as deep as possible. A prosthesis is inserted into the vagina created in this way (so that its walls do not stick together), which is worn until the vagina has healed. Three months after the surgery, the patient should start having sex or use special dilators, otherwise the created vagina will shrink and shrink.

The patient should be under the care of many specialists, including psychologists, sexologists and psychotherapists.

There is also anothermethod of making an artificial vagina . In 2014, "The Lancet" announced that the operation to create an artificial vagina from the body's own cells had been successfully completed.

Cells for culture were collected from the vulva tissue of each of the four MRKH patients who tookparticipation in the experiment. Then, scientists grew them in the laboratory, in special nutrients on a biodegradable scaffold shaped like a vagina.

Modern medicine gives patients with MRHK syndrome a chance for motherhood as well.In 2014, the first child born in a transplanted uterus took place.

If the patient has he althy ovaries, she can choose a surrogate mother, in which an embryo is implanted, created thanks to the in vitro method.

Bibliography:

1. Dłuski E., Bańkowska M., Lisawa J., Surowiec Z.,The value of laparoscopy in the diagnosis and treatment of the Mayer-Rokitansky-Küster-Hauser syndrome in girls , "Nowa Pediatria" 2003, no. 22. Beisert, M., Chodecka A., Kapczuk K., Walczyk-Matyja K., Friebe Z.,Kedzia W., Sexuality of a woman with Mayer-Rokitansky-Küster-Hauser syndrome - case report, "Polish Gynecology" 2013, No. 84

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Category:

Genetic diseases