Ambiguous genitalia refers to a situation where an infant's external genitalia do not clearly look like either a typical male or female appearance. This can be due to a variety of underlying genetic, hormonal, or structural conditions.

The diagnosis of ambiguous genitalia is usually made at birth and may require a team of specialists, including pediatricians, endocrinologists, geneticists, and surgeons, to evaluate the infant and determine the best course of treatment.

Treatment for ambiguous genitalia depends on the underlying cause and may involve surgical procedures to correct the appearance of the genitalia and to ensure normal function. Hormonal therapy may also be necessary to help the infant develop normally.

In some cases, further testing, such as chromosomal analysis, may be necessary to determine the individual's genetic makeup and guide treatment decisions.

It is important for individuals with ambiguous genitalia to receive prompt, appropriate medical care to ensure their physical and emotional health and well-being. With the right support and treatment, many individuals with ambiguous genitalia are able to lead healthy and fulfilling lives.

Once you and your doctor have chosen a gender for your baby, you may choose to begin treatment for ambiguous genitalia. The goal of treatment is long-term psychological and social well-being, as well as to enable sexual function and fertility to the greatest extent possible. When to begin treatment depends on your child's specific situation.

Ambiguous genitalia is uncommon and complex, and it may require a team of experts. The team might include a pediatrician, neonatologist, pediatric urologist, pediatric general surgeon, endocrinologist, geneticist, and psychologist or social worker.

Medications

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.

Surgery

In children with ambiguous genitalia, surgery may be used to:

• Preserve normal sexual function
• Create genitals that appear more typical

The timing of surgery will depend on your child's specific situation. Some doctors prefer to postpone surgery done solely for cosmetic reasons until the person with ambiguous genitalia 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. For boys, surgery to reconstruct an incomplete penis may normalize appearance and make erections possible. Surgery to reposition the testes into the scrotum may be required.

Results of surgery are often satisfying, but repeat surgeries may be needed later. Risks include a disappointing cosmetic result or sexual dysfunction, such as an impaired ability to achieve orgasm.