What is MRKH?
Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is a congenital condition (meaning present at birth) that occurs in 1 in 4000 to 5000 females. Other common terms for MRKH are: Mullerian Agenesis or Vaginal Agenesis/Aplasia (meaning congenital failure or absence of).
What are the characteristics?
Typically, MKRH is characterised by the under development or absence of the uterus, cervix and upper portion of the vagina. Due to the absence of the uterus, women with MKRH will typically not experience menstrual periods, medically known as amenorrhea.Primary amenorrhea (absence of periods) is the most common reason that women with MRKH present for medical investigation. Women with MRKH syndrome have female chromosomes (46XX) and normal ovarian function. The abnormalities of MRKH syndrome comprise of a collection of symptoms that results in the incomplete formation of the Mullerian ducts.
This occurs in the first 6-8 weeks of gestation. It is still not clear as to why this happens and there are no common environmental or inherent factors that have determined a link between mother and baby and the malformation of the Mullerian ducts. Because the ovaries are producing hormones appropriately, women with MRKH will have normal external genitalia and breast development and although a woman with MRKH is incapable of carrying a pregnancy, they are able to have biological children through gestational surrogacy with the assistance with reproductive technologies such as IVF (in vitro fertilisation). Some women with MRKH have other congenital anomalies, such as renal agenesis (absence of kidney), skeletal abnormalities, hearing loss and/or heart defects.
What treatment is available?
Treatment options can vary from woman to woman depending on their personal choices and medical needs. Most commonly, a woman will develop a vagina through vaginal dilation. This is successful in at least 85% of women, and is considered 1st line treatment of MRKH. Surgical options have been performed such as The McIndoe Vaginoplasty procedure, which uses a split skin graft to create a neo vagina. Another procedure which is sometimes performed is the Vecchietti procedure. The Vecchietti procedure is a surgical technique that acts as a rapid traction device, threading an ‘olive’ shaped dimple against the vaginal area, drawing this through the abdomen for external traction. This can be done via keyhole surgery or traditional open technique. Both procedures require post-surgical dilation.
Surgery is not 100% successful, and is not without risk, therefore it should only be considered as an option in circumstances where graduated vaginal dilator therapy has been unsuccessful.Treatment should always be discussed with the appropriately trained medical professionals such as a Paediatric and Adolescent Gynaecologist.
Should you wish to make contact with physicians who specialise in MRKH, please contact the Sisters for Love MRKH Foundation for further information.