- By sahlhealth
- May 18, 2021
- 19 views
Ambiguous Genitalia is a rare condition in which an infant’s external genitals don’t appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. The external sex organs may not match the internal sex organs or genetic sex.Ambiguous genitalia isn’t a disease, it’s a disorder of sex development. Usually, ambiguous genitalia is obvious at or shortly after birth, and it can be very distressing for families. Your medical team will look for the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about your baby’s gender and any necessary treatment.
-Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born. Occasionally, ambiguous genitalia may be suspected before birth (prenatally). Characteristics can vary in severity, depending on when during genital development the problem occurred and the cause of the disorder.
-Babies who are genetically female (with two X chromosomes) may have:
- An enlarged clitoris, which may resemble a penis
- Closed labia, or labia that include folds and resemble a scrotum
- Lumps that feel like testes in the fused labia
-Babies who are genetically male (with one X and one Y chromosome) may have:
- A condition in which the narrow tube that carries urine and semen (urethra) doesn't fully extend to the tip of the penis (hypospadias)
- An abnormally small penis with the urethral opening closer to the scrotum
- The absence of one or both testicles in what appears to be the scrotum
- Undescended testicles and an empty scrotum that has the appearance of a labia with or without a micropenis
-Ambiguous genitalia is usually diagnosed at birth or shortly after. Doctors and nurses who help with delivery may notice the signs of ambiguous genitalia in your newborn.
Determining the cause
-If your baby is born with ambiguous genitalia, the doctors will work to determine the underlying cause. The cause helps guide treatment and decisions about your baby's gender. Your doctor will likely begin by asking questions about your family and medical history. He or she will do a physical exam to check for testes and evaluate your baby's genitalia.
-Your medical team will likely recommend these tests:
- Blood tests to measure hormone levels
- Blood tests to analyze chromosomes and determine the genetic sex (XX or XY) or tests for single gene disorders
- Ultrasound of the pelvis and abdomen to check for undescended testes, uterus or vagina
- X-ray studies using a contrast dye to help clarify anatomy
- In certain cases, minimally invasive surgery may be necessary to collect a tissue sample of your newborn's reproductive organs.
Determining the gender
-Using the information gathered from these tests, your doctor may suggest a gender for your baby. The suggestion will be based on the cause, genetic sex, anatomy, future reproductive and sexual potential, probable adult gender identity, and discussion with you.In some cases, a family may make a decision within a few days after the birth. However, it's important that the family wait until test results are completed. Sometimes gender assignment can be complex and the long-term impact can be difficult to predict. Parents should be aware that as the child grows up, he or she may make a different decision about gender identification.
-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.
- 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.
-In children with ambiguous genitalia, surgery may be used to:
- Results of surgery are often satisfying, but repeat surgeries may be needed laPreserve 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.ter. Risks include a disappointing cosmetic result or sexual dysfunction, such as an impaired ability to achieve orgasm.
-Children with ambiguous genitalia require ongoing medical care and monitoring for complications, such as cancer screenings, into adulthood.