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Ambiguous Genitalia

When a child's gender is in question at birth, because genitals may not appear clearly male or female, the child is said to have ambiguous genitalia. Ambiguous genitalia can be a traumatizing experience for parents.

What are ambiguous genitalia?

Early in fetal development, the tissue that will become the gonads (ovaries or testes) is undifferentiated and has the potential to become either ovaries or testes, depending on the genetics of the fetus. Humans have 46 chromosomes in each cell of their body, or 23 pairs. The 23rd pair determines our gender; females have two X chromosomes, while males have one X and one Y chromosome. The chromosome complement in humans is written: 46, XX, normal female or 46, XY, normal male.

There is a gene located on the short arm (top half) of the Y chromosome, called "SRY," which, if present, will cause the undifferentiated gonad to become testes (indicating a male) around the 6th week of fetal life. At the same time, regression of what would have been the female reproductive tract occurs. As the testes produce testosterone, the phallus (penis), scrotum, and urethra form. Later, during the 7th to 8th month of the pregnancy, the testes will descend into the scrotum.

In the absence of the SRY gene, the gonad will differentiate into an ovary (indicating a female). Likewise, the female reproductive tract will continue to develop, forming the uterus and fallopian tubes. At the same time, regression of what would have become the male reproductive organs occurs.

A variety of genetic and environmental factors may influence this development, leading to ambiguous genitalia. Ambiguous genitalia, as the word implies, may make determining the child's gender more difficult. Very few infants with ambiguous genitalia have genitals that are so ambiguous that a gender determination is not made at birth. Far more common are the following observations at birth:

What causes ambiguous genitalia?

There are a number of different causes of ambiguous genitalia, with the most common described below. The cause, in many cases, is not known and the disorder appears to occur by chance. Children who are born with ambiguous genitalia may fall into one of the following groups:

There are two primary causes of male pseudohermaphroditism:

There are a number of causes of female pseudohermaphroditism:

In some cases, the mother of a child with CAH can be given medications during pregnancy to lessen the effects of the enzyme deficiency, if the fetus is female.

Another type of CAH, called "salt-losing," is very serious and often lethal due to an electrolyte collapse in the newborn. Treatment is available if diagnosed early. Males and females are equally affected. There are other, rarer enzyme problems, which can result in CAH, in either males or females.

There are a number of other syndromes in which ambiguous genitalia is one feature (characteristic) of the disorder, in addition to other features.

How is the gender determined in a child with ambiguous genitalia?

When a child's genitalia appear ambiguous at birth, your child's physician will conduct both a medical history and a physical examination of your child's external genitalia. The medical history will include the mother's health during pregnancy, and a family history of any neonatal deaths or genital abnormalities. First, your child's physician will make a diagnosis of the underlying cause of the disorder. Diagnostic procedures may include a newborn screening test for CAH, hormonal studies, and a biopsy of the reproductive organs.

To determine the sex, your child's physicians will consider the following:

Treatment for ambiguous genitalia:

Sometimes, there is an increased risk for tumors in the gonads. Treatment for ambiguous genitalia depends of the type of the disorder, but will usually include corrective surgery to remove or create reproductive organs appropriate for the gender of the child. Treatment may also include hormone replacement therapy (HRT).

Long-term outlook for children born with ambiguous genitalia:

Making a correct determination of gender is both important for treatment purposes, as well as the emotional well-being of the child. Some children born with ambiguous genitalia may have normal internal reproductive organs that allow them to live normal, fertile lives. However, others may experience reduced or absent fertility (difficulty or inability to conceive a child).

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