Overview

Vaginal agenesis (a-JEN-uh-sis) is a rare disorder in which the vagina doesn't develop, and the womb (uterus) may only develop partially or not at all. This condition is present before birth and may also be associated with kidney or skeletal problems.

The condition is also known as mullerian agenesis, mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser syndrome.

Vaginal agenesis is often identified at puberty when a female does not begin menstruating. Use of a vaginal dilator, a tubelike device that can stretch the vagina when used over a period of time, is often successful in creating a vagina. In some cases, surgery may be needed. Treatment makes it possible to have vaginal intercourse.

Symptoms

Vaginal agenesis often goes unnoticed until females reach their teens, but don't menstruate (amenorrhea). Other signs of puberty usually follow typical female development.

Vaginal agenesis may have these features:

  • The genitals look like a typical female.
  • The vagina may be shortened without a cervix at the end, or absent and marked only by a slight indentation where a vaginal opening would typically be located.
  • There may be no uterus or one that's only partially developed. If there's tissue lining the uterus (endometrium), monthly cramping or chronic abdominal pain may occur.
  • The ovaries typically are fully developed and functional, but they may be in an unusual location in the abdomen. Sometimes the pair of tubes that eggs travel through to get from the ovaries to the uterus (fallopian tubes) are absent or do not develop typically.

Vaginal agenesis may also be associated with other issues, such as:

  • Problems with development of the kidneys and urinary tract
  • Developmental changes in the bones of the spine, ribs and wrists
  • Hearing problems
  • Other congenital conditions that also involve the heart, gastrointestinal tract and limb growth

When to see a doctor

If you haven't had a menstrual period by age 15, see your health care provider.

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Causes

It's not clear what causes vaginal agenesis, but at some point during the first 20 weeks of pregnancy, tubes called the mullerian ducts don't develop properly.

Typically, the lower portion of these ducts develops into the uterus and vagina, and the upper portion becomes the fallopian tubes. The underdevelopment of the mullerian ducts results in an absent or partially closed vagina, absent or partial uterus, or both.

Complications

Vaginal agenesis may impact your sexual relationships, but after treatment, your vagina will typically function well for sexual activity.

Females with a missing or partially developed uterus can't get pregnant. If you have healthy ovaries, however, it may be possible to have a baby through in vitro fertilization. The embryo can be implanted in the uterus of another person to carry the pregnancy (gestational carrier). Discuss fertility options with your health care provider.

Feb. 15, 2022
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  2. Herlin MK, et al. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: A comprehensive update. Orphanet Journal of Rare Diseases. 2020; doi:10.1186/s13023-020-01491-9.
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