Developmental disorders of the vagina and vulva
Key points
- Developmental disorders of the vagina and vulva include a variety of structural abnormalities that occur during fetal development.
- With the union of a sperm and an ovum, an embryo acquires the chromosomes that determine the sex of the fetus (XX=female; XY=male).
- Early recognition of developmental disorders is important, particularly for those that involve sexual ambiguity.
- Optimal outcome is based upon early identification of the abnormalities (during the neonatal period), early chromosomal studies, expert advice, and early intervention with treatment aimed at addressing physical, emotional, and social issues.
Definition
Developmental disorders of the vagina and vulva include a variety of structural abnormalities that occur during fetal development.
Causes, incidence, and risk factors
With the union of a sperm and an ovum, an embryo acquires the chromosomes that determine the sex of the fetus (XX=female; XY=male). For the first 6 weeks, the sex of the fetus is not distinguishable.
At about 6 weeks gestation, ovaries begin to develop in those with two X chromosomes, and testicles develop in those with an X and Y chromosome. Sexual ambiguity may arise when additional X chromosomes are present, or the Y chromosome is not functioning correctly.
The X chromosome is the primary determinant of feminine traits. However, geneticists have noted over 200 traits that are thought to be X-chromosome linked (such as hemophilia and color blindness). In contrast, the Y chromosome has only been linked with testicular formation and the development of male secondary sexual characteristics during puberty.
As fetal development progresses through the pregnancy, problems may arise in the development of internal and/or external sexual organs. Since embryonic tissue is initially the same, with no male and/or female differentiation, such problems may cause genetic males to have "female" genital structures and genetic females to have "male" genital structures.
An example of this is true hermaphroditism. In the past, most of these individuals were raised as males since their external genitalia appeared more masculine. In fact, had early diagnosis been available, most should have been raised as females since they all developed significant breasts and many menstruated. After surgical removal of testicular tissue, some have even become pregnant and delivered normal children.
Symptoms
Symptoms may include:
- Recurring pelvic pain
- Lack of menstrual periods
- Urinary retention
- Painful intercourse
- Absent menstruation
Signs and tests
An inspection of the external genitalia may reveal:
- One side of labia larger than the other, or unusually large on both sides
- Vaginal opening extremely close to the urethra or anus
- Urethra located on the clitoris
- Enlarged clitoris
An examination of the vagina may reveal:
Written and revised by
David Cohen, M.D.
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