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Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser syndrome named after August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küstner, and G. A. Hauser.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare and special condition discovered in females who have amenorrhea (absence of periods). MRKH syndrome affects approximately 1 in 4,000-5,000 newborn girls. Mayer-Rokitansky-Küster-Hauser syndrome affects the reproductive system – clients with this syndrome have undeveloped vagina and absence of uterus but at the same time they have normal ovaries (normal size, normal functions).

Usually girls with Rokitansky syndrome demonstrate normal development – they have normal female external genitalia and at puberty they develop normal breasts and pubic hair. Unfortunately women with Rokitansky syndrome are infertile because of absence of uterus and because of amenorrhea but modern Assisted Reproductive Technologies could be a solution for these women.

Carl Freiherr von Rokitansky

Genetically clients with Rokitansky syndrome have normal female chromosomes – 46,XX. Rokitansky syndrome is a result of uncommon variation in the prenatal development of the female genital tract – it has been determined that the absence of a vagina and uterus is a result of the Mullerian ducts failing to form properly early in embryonic development, resulting in a missing uterus and fallopian tubes and different kinds of malformations of the upper portion of the vagina.

Women with Rokitansky syndrome could have some other body “abnormalities” – kidneys could be abnormally formed and/or abnormally positioned; in some cases kidney may fail to develop (unilateral renal agenesis). Some women with Rokitansky syndrome could develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Women with Rokitansky syndrome could also have hearing loss and/or heart defects.

Mayer-Rokitansky-Küster-Hauser syndrome Causes

The cause of Rokitansky syndrome is unknown but different scientists suggest few probabilities which include the combination of genetic and environmental factors. At present time scientists could not identify any specific genes associated with Rokitansky syndrome – several genes have been tested to study the possibility of the syndrome being genetic, but no single factor has yet been identified to be responsible for Rokitansky syndrome.

It is well known that Rokitansky syndrome develops in embryo during pregnancy and affects the reproductive system due to incomplete development of the Müllerian duct. In normal healthy situation the Müllerian duct is the substance in the embryo which develops into the uterus, fallopian tubes, cervix and the upper part of the vagina.

Some scientists suggested that Rokitansky syndrome caused by something the fetus was exposed to during pregnancy (drugs, medication and/or illnesses).

Most cases of the Rokitansky syndrome occur in women with no history of the same disorder in the family but in few cases it was noted that the syndrome is passed through generations in families (autosomal dominant pattern of inheritance).

Mayer-Rokitansky-Küster-Hauser syndrome Symptoms

Rokitansky syndrome

  • First signal of the Rokitansky syndrome is that at puberty the periods (menstruation) don’t start by age 16-17 (primary amenorrhea),
  • Absent or very short vagina,
  • Uterus that can be absent or nor developed,
  • Normal functioning ovaries,
  • Normal external genitalia
  • Breasts well developed,
  • Normal female pubic hair,
  • Normal female chromosomes – 46 XX,
  • Renal and/or skeletal abnormalities.

Mayer-Rokitansky-Küster-Hauser syndrome Diagnosis

  • Rokitansky syndrome is usually diagnosed at 15-17 when a client presents in her teenage years with a failure to start menstruating – AMENORRHEA.
  • In patients with Rokitansky syndrome the ovaries produce estrogen and other female hormones.
  • Women with Rokitansky syndrome have normal female appearance (developed breasts, female type of pubic hair, female body fat distribution).
  • Painful intercourse and/or problems during intercourse.
  • Pelvic ultrasound could be used to see the presence or absence of the uterus and its condition.
  • Laparoscopy could be used for detailed diagnosis of undeveloped uterus and fallopian tubes.
  • Blood could be used for genetic analysis and some hormonal tests.

Mayer-Rokitansky-Küster-Hauser syndrome solutions

Surgery can repair the abnormal uterus and enable normal sexual intercourse. Rarely the ability to become pregnant can be restored.

Modern solution for infertility during Rokitansky syndrome could be Assisted Reproductive Technologies (ART).

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