Vaginal abnormalities that result in infertility are not common but are important to recognize. Normally, the vaginal vault is the location where the sperm are deposited during intercourse. Barriers to the completion of vaginal intercourse may be largely psychological (such as vaginismus) or anatomic (such as congenital abnormalities of the introitus, an imperforate hymen, vaginal septums). Once deposited in the vaginal vault the sperm must rapidly move from the semen to the cervical mucus, which is the only location in the vagina that has “friendly” characteristics and allows long-term (days rather than minutes to hours) sperm survival.
Available Case Reports:
This is the involuntary spasm of the muscles at the opening of the vaginal vault, preventing penetration with the penis or resulting in painful intercourse. There are degrees of spasm, some of which may be relieved with reassurance and others that totally prevent atraumatic penetration. The psychological basis for vaginismus is not always clear, but may be associated with early sexual abuse or early teaching that sexual relations are immoral or evil. Once the basis underlying vaginismus is recognized by the affected woman, she can often successfully “relearn” what intercourse means for her and relieve the spasm. Occasionally, professional counseling is appropriate.
(2) Orgasmic dysfunction
This is a concern of some couples. In fact, reports cite that up to 15% of women have never experienced an orgasm and up to 35% of women do not experience orgasm on any particular sexual occasion. In terms of fertility, however, orgasm is not thought to be necessary. Evidence for this includes the success of procedures designed to improve fertility without orgasm (such as intrauterine inseminations of sperm in the doctor’s office and IVF with embryo transfer).
(3) The external genitalia of the female
There are a variety of congenital defects of the female external genitalia that impact on fertility.
If the developing female fetus (while inside the mother’s womb) is exposed to high levels of androgenic hormones (the “male” hormones) then defects of the external genitalia might include
a) fusion of the labia
Usually starts posteriorly (nearer the rectum) and progresses anteriorly (toward the clitoris), with different degrees of fusion depending on the timing and amount of androgenic exposure. This fusion may limit the size of the vaginal orifice. The most common cause for excessive fetal androgen exposure is congenital adrenal hyperplasia (CAH). CAH is a genetic abnormality that results in a deficiency of one of the enzymes required for cortisol biosynthesis. In CAH the precursor hormones for cortisol are forced into a biosynthetic pathway that leads to androgen hormone formation. Androgen excess may also occur if the mother of the female fetus ingests medications containing androgenic compounds (such as Danazol or Testosterone).
b) clitoral enlargement
This can be dramatic possibly even making it difficult to distinguish the clitoris from a penis at birth. Clitoral enlargement does not have a clear impact on fertility.
Other vaginal defects that are not clearly hormonally based include
a) imperforate hymen
The hymen is normally perforated slightly prior to birth so that there is a small connection between the inside of the vagina and the outside. This abnormality in which there is no perforation usually is noted at puberty when the initial menstrual flow is obstructed within the vaginal vault, often causing pain and the buildup of blood within the vagina and uterus. Because the fallopian tubes are patent, menstrual flow into the pelvis may result in an increased risk for endometriosis. Excision of the imperforate hymen is usually a straightforward surgical procedure.
b) transverse vaginal septum
Results from an incomplete canalization of the vagina during fetal development. There are a large variety of possible septums, ranging from complete and thick to incomplete and narrow. If there is a complete septum, then there will be a buildup of blood in the vagina and uterus with similar consequences as seen with the imperforate hymen. Transverse vaginal septums are sometimes very difficult to repair and should only be attempted by an experienced vaginal surgeon.
c) vaginal agenesis
Congenital absence of the vagina and uterus is known as the “Rokitansky-Kuster-Hauser-Mayer” syndrome. This syndrome is uncommon but is the second leading cause of primary amenorrhea (ovarian dysgenesis is the leading cause) and is associated with a 35% chance of urologic abnormalities and 10-15% chance of skeletal anomalies. Chromosome analysis is recommended for these patients. The ovaries are usually normal, so that theoretically one could use the woman’s eggs for IVF along with a surrogate uterus. Generally, the creation of a vaginal pouch with either dilators or surgery makes intercourse possible.