Pediatric Congenital Anomalies of the Fallopian Tubes and Ovaries

Pediatric Congenital Anomalies of the Fallopian Tubes and Ovaries

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Summary

Congenital anomalies can affect the vulva, vagina, cervix, uterus, fallopian tubes and ovaries of baby girls. While some of these conditions are noticed as soon as the baby is born, others aren’t typically discovered until later in her life. Birth defects of the fallopian tubes and ovaries are very rare, affecting only 4 percent of female babies.

Expanded Overview

Müllerian anomalies affect up to 4 percent of females. As an embryo forms, two paired müllerian ducts develop into the female reproductive tract which includes the fallopian tubes, uterus, cervix and upper two thirds of the vagina. A wide variety of malformations can occur when this system is disrupted.  Some birth defects of the fallopian tubes and ovaries may need no treatment and not interfere with a woman’s fertility. For conditions that do cause problems with fertility, menstruation or sexual relations, medication and/or surgery can be effective.

There is not one cause of müllerian anomalies. Some may be hereditary, others may be attributed to a random gene mutation or developmental defect.

  • Fallopian tube agenesis, a type of müllerian anomaly, is the absence of one or both fallopian tubes.
  • Anomalies of the ovaries include may include:
    • Absence of one or both ovaries
    • An extra ovary
    • Extra tissue attached to an ovary
    • Ovotestes, which contain both male and female tissue

Symptoms

Symptoms of fallopian tube agenesis include:

  • Failure to start having periods at puberty (primary amenorrhea)
  • Abdominal pain

Symptoms of ovarian anomalies include:

  • Ovarian agenesis – failure to start having periods at puberty (primary amenorrhea)
  • An extra ovary or ovarian tissue usually doesn’t cause symptoms
  • Ovotestes are usually accompanied by an underdeveloped vagina and uterus (or no uterus). Breast development and menstruation may occur. Most people with this condition are infertile.

Tests and Diagnosis

Most of these conditions are not diagnosed until puberty, when a girl fails to get her period or experiences menstrual irregularities or pain. Other conditions aren’t diagnosed until a woman has trouble getting pregnant.

These conditions can be diagnosed by a combination of the following:

  • Pelvic exam by a gynecologist
  • Pelvic and/or abdominal ultrasound
  • Biopsy of any abnormal tissue
  • Blood tests for Mayer-von Rokitansky-Küster-Hauser’s (MRKH) syndrome and/or hormonal abnormalities
  • Pelvic MRI
  • Hysterosalpingography (an x-ray with dye) to examine cervical abnormalities
  • Hysteroscopy – which uses a tiny telescope, called a hysteroscope, inserted through the vagina into the uterus to view and treat areas of concern
  • Vaginoscopy – which uses a tiny telescope inserted into the vagina to view the vaginal vault and cervix

Treatment

In fallopian tube agenesis, treatment depends on the individual patient and her symptoms. If the vagina is also missing, many girls choose to have a vagina created through vaginal dilators or reconstructive surgery.

If a girl has an extra ovary, or extra tissue on an ovary, it may be treated with observation or surgically removed. If a girl has one ovary, treatment is rarely needed. If she has no ovaries, treatment will depend on the individual case. If the vagina is also missing, many girls choose to have a vagina created through vaginal dilators or reconstructive surgery.

Ovotestes can be surgically removed, and the patient may need treatment with hormonal therapy.

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