Born Without a Uterus, Not So Rare
As news reports circulate that Derya Sert, the 22-year-old Turkish woman born without a uterus and who received a uterus transplant from a cadaver, may be pregnant, questions arise about this medical condition. Women who are born without a uterus have a little known but not so rare condition called Mayer-Rokitansky-Kuster-Hauser syndrome, or MRKH, and here’s what you should know about this disease.
How many women are born without a uterus?
In the United States, approximately 75,000 women are affected by MRKH, a congenital disease that is found in about 1 in 4,500 females. The disease is also known as vaginal agenesis/atresia or mullerian agenesis.
Women who have MRKH have fully functional ovaries, even though they may be located in unusual places in the body cavity. However, for reasons unknown, they are born without a fully functional uterus, cervix, and upper vaginal canal. All other female characteristics, including external genitalia and breast development, are normal, and genetically they have two X chromosomes, characteristic of the female sex.
Typically, females do not discover they have MRKH until they begin seeking help from their family doctor or gynecologist because they do not get their period by the time they are 16 or 18 years old. Unfortunately, many doctors are not familiar with MRKH, and so females may see several physicians, including a gynecologist, endocrinologist, and sometimes a urologist before a diagnosis is made.
A diagnosis of MRKH is usually made after women have undergone imaging, such as ultrasound or magnetic resonance imaging (MRI), or laproscopic surgery. Once a diagnosis is established, women are usually referred to a clinical psychologist who specializes in reproductive issues or a geneticist who can help them cope with the news of their condition.
Women born without a uterus may also have problems with their kidneys, including abnormally formed kidneys or those that are located in different places, or a single kidney. Some other symptoms may include heart defects, ringing in the ears (tinnitus) and vertebrae abnormalities.
What causes MRKH?
Scientists have not determined the exact cause of MRKH. Some researchers suggest it is caused by mutations in one or more specific genes. Specifically, mutations of the genes WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 have been named as possible suspects in the development of MRKH.
A new study appearing in ISRN Obstetrics and Gynecology (February 2013) notes that MRKH may be caused by “the lack of development of the Mullerian ducts between the fifth and the sixth weeks of gestation.” The Mullerian ducts are the embryonic tubes that become the uterus and part of the vagina in the female.
Treatment of MRKH
Women with MRKH have several treatment options. One is to use vaginal dilators, also known as the Frank method. This is a nonsurgical approach and is recommended by the American College of Obstetricians and Gynecologists as a way to create a vagina.
Basically, teen girls or women insert a series of dilators (which look like tampons), over time, into the vaginal area to stretch the available tissue. This method can be very effective for some women.
Two other options include surgery. One is a vaginoplasty, which involves creating a vagina using a skin graft from another part of the body, such as the buttocks or bowel. The other is the Vecchetti procedure, which involves combining the Frank method and surgery. The most dramatic of the treatment options is a uterus transplant.