Mayer–Rokitanski–Kuster syndrome
Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome is a congenital (present from birth) disorder that affects the female reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent, although external genitalia are normal. Affected women usually do not have menstrual periods due to the absent uterus.
Etiology[edit | edit source]
The exact cause of MRKH syndrome is unknown. It appears to occur randomly for unknown reasons (sporadically), and some cases have been reported to run in families, which suggests a genetic component. However, no specific genetic abnormalities have been identified to date.
Symptoms[edit | edit source]
The primary sign of MRKH syndrome is a failure to start menstruating by age 16 (primary amenorrhea). Women with MRKH syndrome have a normal female chromosome pattern (46,XX) and normal ovaries, and they typically have normal development of secondary sexual characteristics including breast and pubic hair development. However, they have an underdeveloped or absent uterus, and the vagina may be short or absent.
Diagnosis[edit | edit source]
MRKH syndrome is typically diagnosed when a teenager fails to start her period or has difficulty with tampon insertion. It can be confirmed through imaging tests such as ultrasound or magnetic resonance imaging (MRI), which can reveal the absence or underdevelopment of the uterus and vagina.
Treatment[edit | edit source]
Treatment for MRKH syndrome focuses on creating a functional vagina to allow for sexual intercourse. This can be achieved through nonsurgical methods such as vaginal dilators, or through various surgical procedures. Psychological support is also an important aspect of treatment due to the emotional impact of the diagnosis.
Prognosis[edit | edit source]
Women with MRKH syndrome are typically able to live normal lives with treatment. They are unable to carry a pregnancy, but they can have children through assisted reproduction techniques such as in vitro fertilization (IVF) with a gestational carrier.
See also[edit | edit source]
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