Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome Symptoms

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is primarily associated with abnormal development of the female reproductive system.

Women who suffer from the condition either have an underdeveloped vagina and uterus or these structures are absent altogether. In the majority of cases, affected women do not have periods and a lack of menstruation by age 16 is often the first symptom of the condition.

Women with MRKH syndrome do have normal, functioning ovaries and can still have children with the help of assisted reproduction. Affected females also have normal external genitalia and sexual characteristics but other defects may be present such as underdeveloped kidneys, skeletal abnormalities and impaired hearing.

Some of the clinical features and symptoms of MRKH syndrome include:

  • Primary amenorrhea or absence of periods during puberty
  • Normal development of sexual characteristics such as breasts and pubic hair
  • Normal external genitalia
  • Normal chromosomal patterns seen on karyotyping
  • Functioning ovaries with normal levels of estrogen
  • Reduced vaginal depth, of around 2 to 7 cm.
  • In MRKH type 1 syndrome, only the uterus and upper vagina are abnormal and the fallopian tubes are unaffected. In type II MRKH syndrome, the abnormal development of the uterus and vagina may be accompanied by defects in the fallopian tubes as well as the kidneys and spine. People affected by MRKH type 2 may also suffer from impaired hearing.
  • Less commonly, heart defects are also seen and examples include aorto-pulmonary window, atrial septal defect and pulmonary valvular stenosis.

Further Reading

Last Updated: Feb 27, 2019

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

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Comments

  1. Pallavi Lakshminarayan Pallavi Lakshminarayan India says:

    I have been searching for some article like this. I guess i have MRKH syndrome type-1. Although none of the doctors diagnosed this to me till now. And they always said as to they are not sure of what kind of disorder i have since i am totally normal except for that i have never got my periods till now.
    Thank you

    • miranda lewis miranda lewis United Kingdom says:

      I'm sorry you're suspecting this very issue..I've just shared some concerns as a friend of mine is facing MRKH. And just like you she's never experienced periods..No other bothering symptoms but inability to have a kid naturally. This has become the hugest and most terrifying issue for her and her husband. From what I know they are currently looking onto surrogacy..
      The good news is that your doctors haven't still diagnosed you on MRKH. If they're not sure, then you have chances, as self evaluation cannot be much reliable..I'm wishing you the best!

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