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Genitals - ambiguous
You are concerned about the appearance of your child's external genitalia, or your baby:
Ambiguous genitalia may be discovered during the first well-baby examination.
The doctor will perform a physical examination, which may reveal genitals that are not "typical male" or "typical female," but somewhere in between.
The doctor will ask medical history questions to help identify any chromosomal disorders. Questions may include:
Genetic testing can determine if the child is a genetic male or female. Often a small sample of cells can be scraped from inside the cheeks (this is called a buccal smear). Examining these cells is often enough to determine the genetic sex of the infant. Chromosomal analysis is a more extensive cell study that may be needed in more questionable cases.
Laboratory tests may help determine how well the reproductive organs are functioning. This can include tests for 17-ketosteroids.
Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia.
Sometimes, the parents must choose whether to raise the child as male or female (regardless of the child's chromosomes). This choice can have a big social and psychological impact on the child, so counseling is usually recommended.
Note: It is often technically easier to treat (and therefore raise) the child as female (it is easier for a surgeon to make female genitalia than it is to make male genitalia), so in some cases this is recommended even if the child is genetically male. However, this is a difficult decision and should be discussed with your family, your doctor, and the surgeon involved.
Diamond DA. Sexual differentiation: Normal and abnormal. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 128.
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