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At the Center for Congenital Anomalies of the Reproductive Tract at Children's Hospital Boston, we understand that the diagnosis and management of ambiguous genitalia (genitalia that does not have the typical appearance of either sex) can be stressful for everyone involved. We will work with you and your child to help determine what is best.
When a baby is born, one of the first questions asked is, "is it a boy or a girl?" Sometimes it is not possible to answer this question without further testing.
This can be a medical and a psychological emergency. It is very important to make the right diagnosis, determine if there is a life-threatening disease and discover the appropriate sex of rearing based on chromosomal analysis and the potential for sexual and reproductive function.
A team of health care providers and the parents or guardians help determine the appropriate sex assignment.
Parents' role
Most parents react with shock and anxiety when their child is diagnosed with ambiguous genitalia. It is important for you to know that you have a healthy baby but the development of the external genitalia is incomplete and tests are necessary to determine the sex. Tests will most likely show the cause of the problem and identify the baby as a boy or a girl. The results may take a few days or, at most, one to two weeks.
Speculation about the possible assignment of your baby's sex can be difficult and demanding. Your child should be referred to by all caretakers as "the baby," rather than a boy or a girl. It is helpful to have your baby examined by the pediatrician with you so everyone can understand the baby's anatomy. We encourage you to tell relatives and friends, when asked the sex of the baby, that "the baby is sick" and to delay an announcement as to whether it is a boy or a girl.
Sex assignment
Although a diagnosis of the baby's condition requires knowledge of the chromosomal karyotype, sex assignment is based on other criteria as well. The main issues are the potential for normal sexual function and the option for fertility. In cases of gonadal disorders where fertility is not possible, the decision regarding sexual assignment is usually based on the potential for reconstructive surgery and sexual function.
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