Congenital anomalies of the female genital tract

Our approach

At Northwell Health, our specialists understand the complexity of congenital anomalies of the female genital tract. We are experts in diagnosing and managing these conditions. In addition, we realize that these abnormalities can be overwhelming, so we take the time to walk you through a detailed explanation of the condition, its cause and any necessary treatments.

Overview

Congenital anomalies of the female genital tract are developmental issues that form in the embryo. These formations can occur in the vagina, ovaries, uterus or cervix. 

Causes and risk factors

The development of a baby is a complex process, and there are several factors that can interrupt it. While the exact cause is unknown, issues in development may be related to genetic defects, or even the use of certain drugs during pregnancy. Some of these anomalies can affect fertility and contribute to pregnancy complications. Your doctor will educate you on possible risk factors associated with these malformations. 

Types

There are several types of congenital anomalies of the female genital tract that can occur in the vagina, ovaries, uterus or cervix. These malformations include:

Congenital anomalies of the uterus

  • Septate uterus — A common congenital uterine abnormality, this condition occurs when a band of muscle or tissue divides a uterus into two sections. This condition can cause miscarriages and preterm birth.
  • Bicornuate uterus — This condition deals with a heart-shaped uterus with two horns. It could increase the risk of preterm labor.
  • Arcuate uterus — This condition is described as a uterine surface that has a slight indentation. This condition isn’t highly associated with the loss of pregnancy.
  • Unicornuate — A unicornuate describes a uterus that is only half-developed.
  • Didelphys — This condition occurs when a woman has two uterine bodies. Each uterine has a cervix.

Congenital malformations of the vulva

  • Labial hypoplasia — Labial hypoplasia occurs when one or both of the labia do not develop normally. The labia act as fat pads that protect from trauma. This irregularity can surface either during childhood, or through puberty.
  • Labial hypertrophy — Labial hypertrophy describes the enlargement of the labia. This can lead to irritation, chronic infections, interference with intercourse and pain.

Congenital anomalies of the hymen

  • Imperforate hymen — A hymen is a membrane that surrounds or covers the opening of the vagina. The hymenal tissue is a circular form of tissue, which has a hole within the center. When there is no opening in the hymen, a membrane covers the area called an imperforate hymen. This requires surgical correction and is usually diagnosed in newborns, or during the first menstrual period. If it isn’t surgically corrected, you may experience irregular menstrual periods due to a blockage. This blockage can cause back pain, abdominal pain or difficulty with urination.
  • Microperforate hymen — A microperforate hymen is similar to an imperforate hymen, but with the presence of a very small hole within. This hole makes it difficult for blood and mucus to come through the hymenal opening. Instead of a regular period lasting four to seven days, you could experience longer periods due to the fact that blood cannot drain at a normal rate. This can also make wearing tampons painful. The hymenal tissue could tear during intercourse. A microperforate hymen could go away as you age, or it could tear away due to tampons and intercourse. A surgical correction can be performed to remove extra tissue and create a normal opening.
  • Septate hymen — A septate hymen is when the hymenal membrane has extra tissue in the middle, causing two small vaginal openings as opposed to one. This could interfere with the ability to wear a tampon, or to take a tampon out after it has filled with blood. A septate hymen doesn’t need to be surgically removed and is typically torn during sexual intercourse. Possible side effects include pain, discomfort or bleeding. This can be corrected via a simple surgical approach that removes the septate hymen.  

Congenital anomalies of the vagina                    

  • Transverse vaginal septum — A transverse vaginal septum is a horizontal collection of tissue that forms in the embryo. It essentially creates a blockage of the vagina. This can occur at different levels of the vagina. Some women have a small hole in the septum called a fenestration. During a menstrual period, blood could take longer to flow, causing periods to last longer than four to seven days. If there is no hole and the septum is blocking the upper vagina from the lower vagina, menstrual blood can pool and may cause abdominal pain. This will most likely require surgical correction.
  • Vertical or complete vaginal septum — A vertical or complete vaginal septum is a condition where a wall of tissue runs vertically up and down the length of the vagina, dividing it into two cavities. While this condition may cause no symptoms, you could experience pain when removing or inserting a tampon, or pain during intercourse.
  • Vaginal agenesis — Vaginal agenesis is a condition that develops before birth where the vagina fails to fully develop. The most common form of this condition is Mayer-von Rokitansky–Küster-Hauser’s syndrome (MRKH), where the vagina did not develop in the embryo. Women with MRKH have functional ovaries. There are several variations of MRKH, such as the lack of a vagina and a uterus, or no vagina, a single midline uterus and no cervix. Symptoms include a small pouch where the vagina should be, absence of a menstrual cycle and lower abdominal pain. Vaginal agenesis requires surgical correction, or having intercourse and a baby may be impossible. Some women may have kidney abnormalities.

Congenital anomalies of the cervix

  • Cervical agenesis — Cervical agenesis occurs when a woman is born without a cervix. This means there could be the absence of a uterus and a vagina. If a uterus is present, your doctor may suggest medications to control retrograde menstruation, the backward movement of menstrual fluid. Your doctor may also perform a surgical procedure that fuses the uterus to a vagina.
  • Cervical duplication — Cervical duplication occurs when a woman is born with two cervices. Symptoms can include abnormal pain before a period, abnormal bleeding and infertility issues.

Symptoms

While some congenital anomalies of the female genital tract could be asymptomatic, common symptoms include:

  • Inability to empty the bladder
  • Breasts do not grow
  • Menstrual flow that occurs despite the use of a tampon 
  • Repeated preterm birth, or miscarriages
  • Monthly cramping or pain without menstruation
  • Pain with intercourse 

Diagnosis and testing

Typically, your doctor will be able to identify a congenital anomaly of the genital tract during a complete medical history and physical examination. Other diagnostic procedures include:

  • Hysterosalpingogram (HSG) — An HSG is an X-ray procedure typically used to asses fertility.
  • 3D Ultrasound — This imaging technique provides a three-dimensional picture to your healthcare provider, which is helpful for this diagnosis.
  • Magnetic resonance imaging (MRI) An MRI is a diagnostic procedure that utilizes a large magnet, radiofrequencies and a computer to reflect images of structures and organs within your body.

Treatment options

Congenital uterine abnormalities are treated through surgical procedures. If your doctor determines you need treatment after assessing the location, severity, symptoms or concern about a successful pregnancy, the following surgical techniques may be used:

  • Laparoscopy — Operative laparoscopy involves the use of a thin, lighted tube inserted through a small incision in your abdomen. This procedure is minimally invasive.
  • Hysteroscopy — Operative hysteroscopy is a less invasive surgical procedure used to remove polyps, tumors or abnormalities through cauterizing (demolition of tissue by electric current, heat, freezing, or chemicals).