Birth Defects of the Reproductive System

Birth defects of the reproductive system are common, occurring in approximately 1 in 400 women. The reproductive system is derived from two tubes (the Mullerian ducts) which fuse in the midline followed by absorption of the central portion. The upper portion forms the fallopian tubes and uterus, the lower portion forms the vagina. Defects in this developmental process may include absence of the structures (Mullerian agenesis) and abnormalities in fusion and absorption.

Birth defects of the uterus can be diagnosed with ultrasound, sonohysterography, MRI or surgery. An X-ray hysterosalpingogram or hysteroscopy may suggest the presence of an abnormality; however, since neither test gives information regarding the outside of the uterus, other tests must be done to confirm the diagnosis.

  • Mullerian Agenesis or Rokitansky Syndrome
    Absence of the uterus, also known as Mullerian agenesis or Rokitansky syndrome, affects one in every 4,000 to 5,000 women. Approximately 15% of women with Mullerian agenesis will have defects of the urinary system and 12% will have abnormalities of the spine. Women with Mullerian agenesis have normal ovaries, normal hormones and may achieve a pregnancy with a gestational carrier. To achieve a pregnancy the woman with Mullerian agenesis undergoes IVF to retrieve the eggs, which are fertilized and transferred to a gestational carrier.

    Several techniques have been described in order to enlarge the vagina. Two of the common techniques include dilation and surgery. The Frank technique uses a series of dilators increasing in size. Alternatively, a type of skin graft known as the McIndoe procedure is used to create a vagina.
  • Septate Uterus
    The septate uterus contains a ridge of tissue that protrudes into the uterine cavity. In a septate uterus the inside is the shape of a heart rather than the normal triangle. The outside of the uterus appears normal. This occurs in approximately 1 in 400 women and is a common cause of miscarriage.

    The treatment of a septate uterus is usually outpatient hysteroscopic surgery where the septum is cut with a scissor through a hysteroscope (a small scope passed through the vagina into the uterus). The use of ultrasound at the time of surgery may help lead to a more complete surgery and is particularly useful in complicated cases.
  • Bicornuate Uterus
    A bicornuate uterus is heart shaped on the inside and on the outside of the uterus. Surgical correction of a bicornuate uterus is rarely required.
  • Didelphic Uterus
    A didelphic or double uterus results from failure of the two Mullerian ducts to fuse. There is often a double cervix and double vagina. Surgical correction is not required.
  • Unicornuate Uterus
    A unicornuate uterus occurs when only one of the two Mullerian ducts develops. Surgical correction is not required.

Outlet Obstruction

Outlet obstruction occurs when an opening from the uterus to the vagina is blocked. The most common defect is imperforate hymen. After puberty menstrual blood becomes trapped behind the blockage. The collection of blood may become larger with each month leading to a large painful mass in the pelvis. A thin blockage, such as imperforate hymen, is easily corrected with surgery.

Call 404-778-3401 to make an appointment with a reproductive endocrinologist.