Ambiguous genitalia occurs when something goes wrong during pregnancy to interrupt or disturb the fetus' developing sex organs.
How sex organs form in the womb
A baby's genetic sex is established at conception, based on the 23rd pair of chromosomes. The mother's egg contains an X chromosome, and the father's sperm contains either an X or a Y chromosome. A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome).
Male and female sex organs develop from the same tissue. Whether this tissue becomes male organs or female organs depends on the chromosomes. In males, a region on the Y chromosome triggers the development of testicles, which produce male hormones. The presence or absence of male hormones controls the development of the sex organs. Male genitals develop in response to male hormones from the fetal testicles. In a fetus without a Y chromosome — without the effects of male hormones — the genitals develop as female.
How ambiguous genitalia occurs
A disruption of the steps that determine sex can result in a mismatch between the external genitals and the internal sex organs or the chromosomal sex (XX or XY). A lack or deficiency of male hormones in a genetic male fetus can cause ambiguous genitalia, while exposure to male hormones during development results in ambiguous genitalia in a genetic female.
Mutations in certain genes can influence fetal sex development and cause ambiguous genitalia. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, also can cause ambiguous genitalia. In some cases, the conditions may seem to happen by chance.
Possible causes in genetic females
Causes of ambiguous genitalia in a genetic female may include:
- Congenital adrenal hyperplasia. Certain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens).
- Prenatal exposure to male hormones. Certain drugs that contain male hormones or that stimulate production of the male hormones in a pregnant woman can cause developing female genitals to become more masculine. Examples include progesterone, which is a medication sometimes taken in the early stages of pregnancy, and anabolic steroids. A developing baby may also be exposed to excess male hormones if the mother has a disease or condition that causes hormone imbalance.
- Tumors. Rarely, a tumor in the mother can produce male hormones.
Possible causes in genetic males
Causes of ambiguous genitalia in a genetic male may include:
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- Impaired testicle development. This may be due to genetic abnormalities or unknown causes.
- Congenital adrenal hyperplasia. Certain forms of this genetic condition can impair production of male hormones.
- Androgen insensitivity syndrome. In this condition, developing genital tissues don't respond normally to male hormones.
- Abnormalities with testes or testosterone. Various abnormalities can interfere with the testes' activity. This may include structural problems with the testes, problems with production of the male hormone testosterone or problems with cellular receptors that respond to testosterone.
- 5a-reductase deficiency. This enzyme defect impairs normal male hormone production.
Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.
Ambiguous genitalia isn't a disease. Instead, it is a sign of a condition that affects sexual development.
Ambiguous genitalia is usually obvious at or shortly after birth. Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's gender.
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