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What is Ambiguous Genitalia?

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  • Written By: Mary McMahon
  • Edited By: O. Wallace
  • Last Modified Date: 30 October 2016
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    Conjecture Corporation
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Although the cry of “It's a girl!” or “It's a boy!” is what most people expect in the birthing room, sometimes the sex is not immediately obvious, because the infant has ambiguous genitalia which may share characteristics of male and female genitalia, making it difficult to determine the sex of the child. In this case, it may take some time to determine the infant's genetic sex, and to decide what steps to take.

A number of different things can lead to ambiguous genitalia. One is a chromosomal abnormality, of which there are quite a number, which leads to unusual development of the sex organs during fetal development. People with chromosomal abnormalities might have, for example, XXY sex chromosomes. Several congenital conditions such as congenital adrenal hyperplasia can also lead to ambiguous genitalia.

Other things can include abnormalities in hormone levels during development, random variations which occur during fetal development, or exposure to medications taken by the mother. All of these factors can cause things such as an enlarged clitoris in girls, along with other variations in the female genitalia which may make the sex of the baby unclear, while boys may have penises which are smaller than average, or variations in the formation of their testes which could lead to confusion when attempting to determine the infant's gender.

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In many cases, ambiguous genitalia are not dangerous, and they are primarily addressed due to concerns about socialization. In other instances, they are linked with dangerous genetic conditions, in which case they are a symptom of a larger problem. For this reason, doctors like to take their time when finding out why an infant has ambiguous genitalia, so that parents will know the complete story, which will allow them to make the most informed decision possible about what to do.

When ambiguous genitalia are caused by a dangerous condition, that condition needs to be treated or addressed before moving on to the issue of the genitalia, while in cases in which such causes have been ruled out, the genitals may be the primary concern. Treatments available for ambiguous genitalia include hormones to encourage the genitals to develop in one direction or another, or surgery to address variations in the formation of the genitalia. Surgery is also sometimes necessary because occasionally abnormalities in the formation of the genitals lead to problems such as a closed urethra.

There is some debate over the treatment of ambiguous genitalia. Organizations which advocate for people known as “intersex” because they are not specifically male or female have raised concerns about situations in which parents may be forced to pick a sex for their children. In cases where a child has a clear genetic sex and minimal treatment is needed to encourage the genitals to form in alignment with that sex, treatment is less controversial. But when extensive surgery or other measures are needed, some organizations have suggested that children should be allowed to grow up and make their own decision. Parents who opt for this choice are relatively few, in part because of the very serious concerns about the social problems a child or young adult with ambiguous genitalia can face. In some cases, intersex children who have been assigned a sex at birth later take on a different gender identity.

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