Ambiguous genitalia (am·big·u·ous - gen·i·ta·lia) is a rare condition in which an infant’s external genitals don't appear to be clearly male or female. The genitals may not be well-formed or the baby may have characteristics of both sexes. And, the infant’s external sex organs may not match his or her internal sex organs or genetic sex. At Children’s Health℠ we have extensive experience in managing children with DSD and strive to provide compassionate and excellent care to the patients and families.
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While a child’s genetic sex is determined at conception, the male and female reproductive organs and genitals both develop from the same tissue in the fetus. If this process is disrupted, ambiguous genitalia can develop.
The main factor controlling this process is the presence of male hormones. The presence of male sex hormones causes male organs to develop and the absence of male hormones causes female organs to develop.
In genetic females (babies with two X chromosomes - 46XX):
In genetic males (one X and one Y chromosome - 46XY):
If your infant is born with ambiguous genitalia, your doctor may order:
Using information from these tests, your doctor will suggest an appropriate gender for your baby based on genetic sex, anatomy, and future reproductive and sexual potential.
It’s important to wait until test results are in to assign your baby a gender. Gender assignment can be complex and often unpredictable. Parents should be aware that as the child grows up, she may make a different decision about her gender identification.
A child born with ambiguous genitalia will generally have a condition that will be in a category called Disorders or sex development (DSD). There are many different causes for DSD.
Any step along the development of the gonads and genitalia can be disrupted and lead to DSD. For example: there may be a genetic abnormality that leads to improper development of the gonads, there may be problems with the creation of hormones needed for development of the genitalia, the receptors for the hormones can have problems with detecting the hormones, or there can be too much of a certain hormone leading to abnormal development.
Family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities.
Conditions leading to ambiguous genitalia or conditions that may be present include:
When a child is born with ambiguous genitalia and a DSD, this is obviously a very stressful time for parents. The evaluation of a child born with ambiguous genitalia begins soon after birth.
Our goal is to ensure the child is medically stable, relay information to families and ensure their understanding, order appropriate diagnostic tests, and make an accurate diagnosis. Sometimes reconstructive surgery is needed for children with DSD and our physicians have extensive experience with a wide variety of surgical techniques.
Ambiguous genitalia is uncommon and complex, and treatment often requires cooperation among pediatricians, neonatologists, pediatric urologists, pediatric general surgeons, endocrinologists, geneticists, and psychologists or social workers.
Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty.
The timing of surgery will depend on your child's specific situation. Some doctors prefer to postpone surgery until your child is mature enough to participate in the decision about gender assignment.
For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girl’s vagina is hidden under her skin, surgery in childhood can help with sexual function later.
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). But importantly, most children with ambiguous genitalia are usually healthy.
Your doctor can recommend counseling and psychological support for your child and your family, as well as local and online support groups.
