Vaginal anomalies are abnormal structures that are formed (or not formed) during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina. When present, they are often found with uterine, skeletal and urinary abnormalities. This is because these structures, like the vagina, are most susceptible to disruption during crucial times of organ-genesis. Many of these defects are classified under the broader term Müllerian duct anomalies. Müllerian duct anomalies are caused by a disturbance during the embryonic time of genitourinary development. The other isolated incidents of vaginal anomalies can occur with no apparent cause. Oftentimes vaginal anomalies are part of a cluster of defects or syndromes. In addition, inheritance can play a part as can prenatal exposure to some teratogens. 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. In instances where a functional ovary exists, IVF may be successful. Functioning ovaries in a woman with a vaginal defect allows the implantation of a fertilized ovum into the uterus of an unaffected gestational carrier, usually another human. Vaginal length varies from 6.5 to 12.5 cm. Since this is slightly shorter than older descriptions, it may impact the diagnosis of women with vaginal agenesis or hypoplasia who may unnecessarily be encouraged to undergo treatment to increase the size of the vagina. Vaginal anomalies may cause difficulties in urination, conception, pregnancy, or impair sex. Psychosocial effects can also exist.
Signs and symptoms
Isolated anomalies Some anomalies are found upon examination shortly after birth or when the development of sexual characteristics does not progress as expected. Defects that prevent menstrual flow become obvious when amenorrhea occurs.
Syndromes Syndromes may take longer to identify since they are rare and often involve errors in metabolism. Many syndromes share the same signs and symptoms.
Associated uterine defects Uterine defects can accompany vaginal abnormalities:
Müllerian agenesis (absent uterus). Uterus is not present, vagina only rudimentary or absent. Uterus didelphys, also uterus didelphis (double uterus). transverse vaginal septum Septated uterus (uterine septum or partition). With a complete vaginal septum. Rudimentary uterus is a uterine remnant not connected to cervix and vagina. Women with uterine abnormalities may have associated renal abnormalities including unilateral renal agenesis.
Anomalies associated with syndromes Some congenital syndromes present with vaginal anomalies in association with other serious conditions. These include Fraser syndrome, WNT4 deficiency, and Bardet-Biedl syndrome, Isolated incidents of vaginal anomalies can occur with no apparent cause and in other instances these anomalies are part of a syndrome or cluster of other abnormalities. The origin of many vaginal anomalies is due to a disturbance during the embryonic stage of genitourinary development. Inheritance can play a part as can prenatal exposure to hormones and teratogens. Though the presence of a vaginal anomaly does not necessarily prevent conception and a successful pregnancy when a functional uterus and ovaries are present, vaginal anomalies increase the risk of miscarriage.
Prenatal exposure to some hormones can cause vaginal anomalies as can the lack of necessary hormones needed for normal development. Diethylstilbestrol (DES), also known formerly (and inappropriately) as stilboestrol, is a synthetic nonsteroidal estrogen and teratogen that can cause vaginal abnormalities in the developing embryo.
Cause The cause of isolated cases of vaginal anomalies can not always be identified, though disruption of the embryonic development of the vagina likely plays a significant role.
Diagnosis Imaging studies are usually the most useful in diagnosing vaginal anomalies including retrograde contrast studies. An anomaly scan can be helpful, especially detecting the presence of a urogenital syndrome. Genetic and metabolic defects require further testing to support a diagnosis.
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