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what-is-mrkh January 27, 2020

The Mayer-Rokitansky-Küster-Hauser (MRKH)

What is MRKH Syndrome?

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital developmental disorder and not a genetic disorder. Congenital means that it’s acquired during development and is present at birth.  It is characterized by complete absence or very small uterus along with  the upper part (2/3) of the vagina in women,  showing normal development of secondary sexual characteristics(breasts), ovaries and a normal 46, XX  karyotype.

Causes:

The cause of this disorder is not known. For some reason the Mullerian duct and its derivatives do not develop. This condition causes the upper part of the vagina and uterus to be underdeveloped or absent, although external genitalia are normal.

Symptoms:

Affected women usually do not have menstrual periods due to the absence of uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea).  Such patients have normal breast development, pubic hair and ovaries.

Diagnosis:

The most common age for MRKH to be diagnosed is when a young woman is between 15 and 18 years old, because she hasn’t started her periods. Girls with MRKH have normal ovaries and fallopian tubes. Most often the uterus is absent or tiny. The vaginal canal is typically shorter and narrower than usual or it may be absent.

Ultrasound or MRI :

A pelvic ultrasound is usually the first test to check to see if a uterus or womb is present. This test can also confirm that you have two ovaries and two kidneys. Sometimes a very tiny uterus can be seen. A tiny uterus is called a “uterine horn or remnant”.

Options to have a baby:

Women with this condition are unable to get pregnant, because of the absence or under developed uterus. Since, the women have normal ovaries, they can have her own biological children. This involves taking an egg from your ovary and sperm from a male partner or a sperm donor, and fertilizing them in a lab. Embryo thus created can be transplanted in a surrogate to carry the baby to term.

Surrogacy: Someone else such as your sister, friend, or another person you choose, could potentially be a gestational carrier. Gestational carriers are women who agree to carry a pregnancy for a couple. Because this child would be created using your egg and your partner’s or a donor’s sperm, you would be the biological parent of this child. This option seems be the best choice, as it can be performed at an IVF clinic, and you can have a biological child of your own.

Uterine transplants: This is a very complicated surgery that was first performed in Sweden in 2014. then applying to be in the program. Look for a clinic where uterine transplant can be carried out.

Next steps include: IVF procedure where an egg and sperm are harvested and embryos are created and frozen  for later use in a transplanted uterus [or gestational carrier]. Finding a uterine doctor, deceased uterus donor with a good match, having the surgery done, and embryo transferred to the transplanted uterus is not easy.

Another option can be adoption, but such a baby is not your biological child, and it is not easy to adopt a child in India

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