Unfortunately, some newborns are born with defects. One such aspect is congenital abnormalities of the reproductive tract. Congenital abnormalities of the reproductive tract, while often overlooked, can have significant impacts on reproductive health and overall well-being. These anomalies, present from birth, arise from developmental issues during foetal growth, affecting the structure and function of reproductive organs.

Understanding these conditions is crucial for early diagnosis, appropriate medical intervention, and improved patient outcomes. In this article, we explore the various types of congenital abnormalities affecting the reproductive system, their causes, symptoms, and the latest advancements in diagnosis and treatment options.

What are Congenital Abnormalities of the Reproductive Tract?

Congenital abnormalities of the reproductive tract are structural disorders of the reproductive tract which consists of the uterus, fallopian tubes, cervix and vagina. They develop when the child is growing in the womb. This condition is rare and may affect:

• The ovaries have a different developmental journey from the rest of the reproductive tract tissue. Although rare, the ovary can have some issues such as the ovary being in an unusual location or an absent ovary.
• The vagina can have some developmental issues such as a blockage or a duplication due to the presence of a wall in the middle of the vagina or the absence of it.
• The uterus and cervix are prone to a range of disorders including the absence of a uterus, cervix to duplicated uterus and cervix and half a uterus with a cervix. Sometimes even if the uterus is normal, there can be a wall down the middle of the uterus. An abnormality can also be a girl missing a kidney.
• The hymen, which is a thin tissue that partly covers the opening of the vagina. Sometimes the hymen can be imperforated, completely blocking the vaginal opening. This prevents the menstrual blood from passing, which can lead to pelvic pain during puberty. On the other hand, the hymen has a very small opening, which can make tampon use difficult.
• External Genitals include fused labia (the fold of the tissue around the opening of the vagina joined together) and swollen clitoris.

Causes of Congenital Abnormalities of the Reproductive Tract

The development of a healthy baby requires the proper functioning of multiple factors. But a range of factors can mess it up as well leading to issues with development. Such factors, which can disrupt the normal development of a child in the womb include the use of certain drugs during pregnancy and genetic abnormalities. These factors can negatively impact a female reproductive system and lead to pregnancy-related issues.

If you’re planning to conceive, ensure to have a frank discussion with your doctor regarding your family history and past medical history to find out if you’re suffering from any congenital abnormalities.

Types of Congenital Abnormalities of the Reproductive Tract

Let’s take a deeper look at the types of such abnormalities:

1. Congenital abnormalities of the uterus

These are developmental abnormalities related to the uterus. The most common types of uterus-related issues include:

• Septate uterus which means the uterus is divided into two parts by a membrane called the septum. It can cause complications during pregnancy and lead to miscarriage. This condition is also known as a uterine septum. Most people do not understand that they have this condition till they become pregnant or suffer from multiple miscarriages.
• Bicornuate uterus which is an irregular shaping of the uterus. This condition is usually not concerning, but it can increase the risk of miscarriage and preterm labour. Most women don’t realise they have bicornuate uterus until they have symptoms. However, some people have repeated miscarriages and painful periods.
• Arcuate uterus, a minor irregularity in the shape of the uterus. This condition rarely affects pregnancy or leads to severe health complications. Most healthcare providers regard an arcuate uterus as a normal variation rather than an abnormality. While rare, an arcuate uterus is typically considered a normal structural variation of the uterus. It doesn’t cause symptoms and is not linked to any negative pregnancy or health outcomes.
• Unicornuate uterus is a genetic condition where only one-half of a girl’s uterus has developed. Unicornuate uterus can increase the risk of miscarriages and preterm delivery. If a rudimentary horn is also present with an unicornuate uterus, a woman may experience pelvic pain. The unicornuate uterus is also known as a uterus with one horn or a single-horned uterus.
• Didelphys is a rare congenital condition where a girl is born with two uteruses. For women with uterus didelphys, the two ducts don’t join together. In some cases, individuals with a double uterus may also have two cervixes and two vaginal canals. Unlike the typical pear-shaped uterus, the uteri in the uterus didelphys resemble the shape of bananas.

2. Congenital abnormalities of the cervix

Some women are born with cervical agenesis, meaning they lack a cervix. In such cases, they may also have an absence of the uterus, the vagina, or both.

3. Congenital abnormalities of the vulva

Sometimes an infant may be born with congenital abnormalities of the vulva such as:

• Labial hypoplasia which means one side of the labia is smaller or absent. It is usually a harmless condition where one or both sides of the labia either don’t grow normally or are missing during puberty.
• Childhood asymmetry labium majus enlargement, where the outer vaginal lips become enlarged or swollen on one side due to excess tissue growth. This leads to an asymmetrical appearance.

4. Congenital abnormalities of the vagina

Congenital abnormalities of the vagina include:

• Micro-perforate or imperforate hymen. Many women do not realise they have an imperforate hymen until they reach puberty and start having issues with periods. The blood gets trapped inside the vagina during menstruation as the hymen covers the exit out of your uterus. This condition can lead to pain and other symptoms.
• Lower vaginal atresia where the lower portion of the vagina does not develop properly and is sometimes replaced by fibrous tissue that causes blockage. Common symptoms of lower vaginal atresia include a dimple or a small pouch where the vaginal opening should be, periods that don’t start normally, obstruction in the vagina, abdominal pain and mass in the pelvis.
• A transverse vaginal septum or a horizontal wall of tissue that blocks the vagina. Most women with this condition have a small hole within the septum. So, although they have regular menstrual periods, they may last longer.
• Obstructed hemi-vagina with ipsilateral renal agenesis (OHVIRA). This is a complex condition where a girl is born with a double vagina or a double uterus. Sometimes infants are also born with one side obstructed by a wall of tissue which can block menstrual blood from flowing out normally. This condition also includes missing a kidney.
• Vaginal agenesis which is a complete absence of vagina at birth. This includes multiple conditions and can be associated with skeletal and kidney problems. Vaginal agenesis is usually identified during puberty when a girl doesn’t get periods.
• Complete or vertical vaginal septum, where a wall of tissue runs vertically up and down the length of the vagina dividing it into two separate cavities.

5. Congenital abnormalities of the hymen

The hymen is a membrane of tissue that forms around the vaginal opening. It typically has a ring-like shape with a central opening and is present from birth. Abnormalities of the hymen include:

• Imperforate hymen
• Micro-perforated hymen
• Septate hymen

Symptoms Associated with This Condition

These abnormalities can have various symptoms, which depend on the age of the girl and the severity of the condition.

Diagnosis of Congenital Abnormalities of the Reproductive System

In many cases, these disorders are apparent at birth and hence are diagnosed in newborns. However, some conditions are not diagnosed until the girl is older and starts having symptoms or the disorder is discovered during a physical examination. Some of the methods by which these conditions are diagnosed include:

• Thorough physical examination including a detailed medical history
• Pelvic exam
• Urine test
• Blood tests to measure hormone levels
• Imaging tests including MRI or pelvic ultrasound take images of the internal reproductive organs
• Genetic testing to determine the gender

Treatment for These Conditions

Most of these abnormalities are corrected surgically. A surgical procedure is required to remove a blockage of the vagina and/or uterus. If the abnormality is identified during childhood, the surgical procedure is usually delayed until the child is older and starts periods.

The type of surgery is decided by assessing the intensity, symptoms and concerns. The following surgical options are available to correct these abnormalities:

• Laparoscopy: This is a keyhole surgery performed in the belly area. This kind of surgery leads to reduced pain, speedy recovery and less scarring. In most cases, the patient doesn’t need to stay overnight at the hospital.
• Hysteroscopy: A surgical procedure used to remove the uterine septum.
• Dilator: In rare cases where a girl is born without a vagina, options for creating one are considered after she has gone through puberty. One common recommendation is the use of a dilator, which is a simple and effective treatment. This device helps stretch and widen the area where the vagina should be. Using this non-surgical method, it typically takes about four to six months to form a new vagina.

Diagnosis of such an abnormality can be daunting for the families of the children. They need all the emotional support they can get. It can be a difficult time for the girls as they get older. Counselling can help to deal with this. Joining support groups can also be helpful.

Sources:

• https://www.brighamandwomens.org/obgyn/infertility-reproductive-surgery/congenital-anomalies
• https://www.kjkhospital.com/congenital-abnormalities-of-the-female-reproductive-tract/
• https://www.texaschildrens.org/content/conditions/congenital-reproductive-tract-disorders
• https://www.northwell.edu/obstetrics-and-gynecology/conditions/congenital-anomalies-of-the-female-genital-tract
• https://www.columbiadoctors.org/treatments-conditions/congenital-abnormalities-reproductive-tract-pediatric
• https://medlineplus.gov/ency/imagepages/19926
• https://my.clevelandclinic.org/health/diseases/septate-uterus
• https://my.clevelandclinic.org/health/diseases/bicornuate-uterus
• https://my.clevelandclinic.org/health/diseases/arcuate-uterus
• https://my.clevelandclinic.org/health/diseases/unicornuate-uterus
• https://my.clevelandclinic.org/health/diseases/uterus-didelphys