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MRKH

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WHAT ARE THE CHARACTERISTICS OF MRKH?


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.