What are congenital anomalies?
Congenital anomalies (or congenital malformation) of the female genital tract are developmental issues that form in the embryo. These formations can occur in the vagina, ovaries, uterus, or cervix.
Although relatively uncommon, some women born with congenital vaginal abnormalities may go undiscovered for years and may cause difficulties throughout the lifespan. Vaginal abnormalities may lead to problems having sex and using tampons or may interfere with menstruation and childbirth.
Many vaginal anomalies are not detected at birth because the external genitalia appear to be normal. Other organs of the reproductive system may not be affected by an abnormality of the vagina.
The uterus, fallopian tubes, and ovaries can be functional despite the presence of a defect of the vagina and external genitalia. A vaginal anomaly may not affect fertility. Though it depends on the extent of the vaginal defect, it is possible for conception to occur.
Congenital vaginal abnormalities typically involve the development of a septum – this is a fleshy piece of tissue that separates an anatomical cavity. The tissue separating your nasal cavity into two nostrils is one example of a septum. However, septums can also grow abnormally inside the vagina.
What are the symptoms of congenital anomalies of the vagina?
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
- Infertility, repeated preterm birth, or miscarriages
- Monthly cramping or pain without menstruation
- Pain with intercourse
- Abdominal pain
How are congenital anomalies of the vagina diagnosed?
Typically, your women’s healthcare doctor will be able to identify a congenital anomaly of your genital tract during a complete review of your medical history and physical examination. Other diagnostic procedures may include:
- Hysterosalpingogram (HSG)—An HSG is an X-ray procedure typically used to assess 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, radio frequencies, and a computer to reflect images of structures and organs within your body.
What are the types of congenital abnormalities of reproductive organs?
Transverse vaginal septums
When a septum develops “horizontally” across the vaginal canal, this is called a transverse vaginal septum. It divides the vagina into a top half and a bottom half; sometimes, the division is complete, and sometimes it is partial.
This type of vaginal abnormality is very rare, occurring in only one out of every 3,000-80,000 female infants. Doctors are not entirely sure how many patients this condition affects because it often goes unnoticed unless it’s causing problems.
A complete or nearly complete division could cause blockages, trapping menstrual blood inside the vagina at the onset of puberty.
Retrograde menstruation
In the case of a complete blockage, there is an increased chance that menstrual blood will flow inward instead of outward, which may cause endometriosis.
Endometriosis is a painful condition in which the endometrium (the uterine lining normally shed during menstruation) attaches itself to tissue outside the uterus. It can cause painful periods and fertility problems, but there are treatments available.
Longitudinal vaginal septum
Women with a complete vaginal septum also have duplication of the upper reproductive tract and thus have two uteri and two cervixes. Also known as a “double vagina,” in this condition, a septum divides the vagina “vertically” into two separate canals with two vaginal openings, both leading from the vulva to the cervix.
Many women with a longitudinal septum also have a double cervix and an abnormality of the uterus, such as a septate uterus or two uteruses.
This type of abnormality occurs during fetal development. During normal development, the vaginal canal is formed from the fusion of two adjacent tubes called the Mullerian ducts. If these ducts fail to merge completely, the infant will be born with a “double vagina.”
This is another condition that many women may not discover until later in life, or never if it doesn’t cause any problems. For this reason, it is difficult to estimate how many women are affected, although it does seem to be more common than transverse septums.
Cervical agenesis
Cervical agenesis is a rare congenital condition where the cervix, the lower part of the uterus that connects to the vagina, is absent. This condition can result in a blockage of menstrual flow, leading to symptoms such as pelvic pain, and may cause fertility challenges.
Diagnosis usually occurs during adolescence, when menstruation does not begin (primary amenorrhea). Treatment often involves surgical options to create a functional connection between the uterus and the vagina, though the condition can significantly impact fertility and reproductive health.
Imperforate hymen
An imperforate hymen is a congenital condition in which the hymen, a thin membrane located at the vaginal opening, completely covers the vaginal entrance, leaving no opening. This prevents menstrual blood and other fluids from passing out of the vagina, which can lead to complications. It is usually diagnosed at puberty when young women experience symptoms like abdominal or pelvic pain and the absence of menstrual flow (amenorrhea) despite signs of puberty.
Treatment typically involves a minor surgical procedure to create an opening in the hymen, allowing normal menstrual flow and relieving symptoms. This condition is usually detected and corrected before significant health issues arise.
Vaginal Agenesis
Vaginal agenesis, or absence of the vagina, is a congenital disorder of the female reproductive tract. It affects about 1 in every 5,000 female infants. The cause of vaginal agenesis is unknown. A woman with complete vaginal agenesis may have this abnormality based on the fact that the vagina did not grow during embryologic development, and this is called Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. There are many variations to this syndrome.
Nearly all patients without a vagina have associated anomalies of the urinary tract, including renal agenesis, renal anomalies, ectopic pelvic kidney, and ureteral anomalies.
With vaginal agenesis, a vagina will need to be created to have normal sexual function.
Reconstructive surgery to repair the defect or create a new vagina is called vaginoplasty. There are numerous options for the creation of a vagina. We recommend that we initially start with the utilization of vaginal dilators to create a functional vagina.
Androgen insensitivity syndrome (AIS) is an inherited condition where a baby does not develop a uterus, cervix, fallopian tubes, or part of the vagina. In some cases, the vagina may be completely absent.
Lower vaginal atresia
This happens when the lower portion of the vagina fails to develop properly and may be replaced by fibrous tissue that causes a blockage.
Labial hypoplasia
Labial hypoplasia is a condition where the labia, typically the labia majora, are underdeveloped or smaller than usual. It can affect one or both sides and is usually congenital, but it does not typically cause health issues.
Pregnancy with congenital vaginal abnormalities
Vaginal septums can cause some problems getting pregnant and during pregnancy, but most women with vaginal septums can carry healthy pregnancies. Some areas where you may run into issues include:
- Conceiving naturally with a complete vaginal blockage may be difficult
- Miscarriage and early pregnancy loss incidence is slightly higher for women with vaginal septums
- Risk of premature birth and preterm labor
- Possible congenital abnormalities in the fetus
- Difficulty during labor, especially if the mother has a previously undiscovered septum
Talk to your doctor about your concerns. A vaginal septum can be surgically removed if it causes you discomfort or if your gynecologist suspects it will cause complications to your fertility. This type of procedure is known as a septoplasty.
Why choose Dr. Thais Aliabadi
Dr. Aliabadi and her compassionate gynecology and obstetrics team are experts in women’s health care. When you’re treated by Dr. Aliabadi, you’re guaranteed to feel safe, heard, and well cared for.
We invite you to establish care with Dr. Aliabadi. Please make an appointment online or call us at (844) 863-6700.
The practice of Dr. Thais Aliabadi and the Outpatient Hysterectomy Center is conveniently located for patients throughout Southern California and the Los Angeles area. We are near Beverly Hills, West Hollywood, Santa Monica, West Los Angeles, Culver City, Hollywood, Venice, Marina del Rey, Malibu, Manhattan Beach, and Downtown Los Angeles.
Sources
Jost, A. (1958). Embryonic sexual differentiation. In Jones, H. T. and Scott, W. W. (eds.) Hermaphroditism, Genital Anomalies and Related Endocrine Disorders, pp. 15–45. (Baltimore: Williams & Wilkins).
Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 569.
Thalidomide: the tragedy of birth defects and the effective treatment of disease. Kim JH, Scialli AR. Toxicol Sci. 2011; 122 :1–6. [PubMed]
Supported by her warm professional team, Dr. Aliabadi treats women through all phases of life and cherishes the special one-on-one relationship between patient and doctor.