Ambiguous genitalia
Definition :
Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.
Ambiguous genitalia isn't a disease. Instead, it is a sign of a condition that affects sexual development.
Ambiguous genitalia is usually obvious at or shortly after birth. Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's gender.
Symptoms:
Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born.
Babies who are genetically female (with two X chromosomes) may have:
Ambiguous genitalia occurs when something goes wrong during pregnancy to interrupt or disturb the fetus' developing sex organs.
How sex organs form in the womb
A baby's genetic sex is established at conception, based on the 23rd pair of chromosomes. The mother's egg contains an X chromosome, and the father's sperm contains either an X or a Y chromosome. A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome).
Male and female sex organs develop from the same tissue. Whether this tissue becomes male organs or female organs depends on the chromosomes. In males, a region on the Y chromosome triggers the development of testicles, which produce male hormones. The presence or absence of male hormones controls the development of the sex organs. Male genitals develop in response to male hormones from the fetal testicles. In a fetus without a Y chromosome — without the effects of male hormones — the genitals develop as female.
How ambiguous genitalia occurs
A disruption of the steps that determine sex can result in a mismatch between the external genitals and the internal sex organs or the chromosomal sex (XX or XY). A lack or deficiency of male hormones in a genetic male fetus can cause ambiguous genitalia, while exposure to male hormones during development results in ambiguous genitalia in a genetic female.
Mutations in certain genes can influence fetal sex development and cause ambiguous genitalia. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, also can cause ambiguous genitalia. In some cases, the conditions may seem to happen by chance.
Possible causes in genetic females
Causes of ambiguous genitalia in a genetic female may include:
Causes of ambiguous genitalia in a genetic male may include:
Complications of ambiguous genitalia may include:
Once you and your doctor have chosen a gender for your baby, you may opt to begin treatment for ambiguous genitalia. The goal of treatment is to ensure sexual function and fertility, as well as long-term psychological and social well-being. When to begin treatment depends on your child's specific situation.
Medications
Hormone medications may help correct the hormonal imbalance. In some children, hormones may be administered shortly after birth and may be the only treatment necessary. 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 shrink the tissue close to a normal size. Other children may take hormones around the time they would normally undergo puberty.
Surgery
In children with ambiguous genitalia, surgery may be used to:
For girls with ambiguous genitalia, the sex organs often 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 improve appearance and make erections possible.
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.
Definition :
Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In ambiguous genitalia, a baby's genitals may not be well formed or the baby may have characteristics of both sexes. In a baby with ambiguous genitalia, the external sex organs may not match the internal sex organs.
Ambiguous genitalia isn't a disease. Instead, it is a sign of a condition that affects sexual development.
Ambiguous genitalia is usually obvious at or shortly after birth. Ambiguous genitalia can be very distressing for families. Your medical team will determine the cause of ambiguous genitalia and provide information and counseling that can help guide decisions about the baby's gender.
Symptoms:
Your medical team will likely be the first to recognize ambiguous genitalia soon after your baby is born.
Babies who are genetically female (with two X chromosomes) may have:
- An enlarged clitoris, which may resemble a small penis
- Closed labia, or labia that include folds and resemble a scrotum
- Lumps that feel like testes in the fused labia
- 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
Ambiguous genitalia occurs when something goes wrong during pregnancy to interrupt or disturb the fetus' developing sex organs.
How sex organs form in the womb
A baby's genetic sex is established at conception, based on the 23rd pair of chromosomes. The mother's egg contains an X chromosome, and the father's sperm contains either an X or a Y chromosome. A baby who inherits the X chromosome from the father is a genetic female (two X chromosomes). A baby who inherits the Y chromosome from the father is a genetic male (one X and one Y chromosome).
Male and female sex organs develop from the same tissue. Whether this tissue becomes male organs or female organs depends on the chromosomes. In males, a region on the Y chromosome triggers the development of testicles, which produce male hormones. The presence or absence of male hormones controls the development of the sex organs. Male genitals develop in response to male hormones from the fetal testicles. In a fetus without a Y chromosome — without the effects of male hormones — the genitals develop as female.
How ambiguous genitalia occurs
A disruption of the steps that determine sex can result in a mismatch between the external genitals and the internal sex organs or the chromosomal sex (XX or XY). A lack or deficiency of male hormones in a genetic male fetus can cause ambiguous genitalia, while exposure to male hormones during development results in ambiguous genitalia in a genetic female.
Mutations in certain genes can influence fetal sex development and cause ambiguous genitalia. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, also can cause ambiguous genitalia. In some cases, the conditions may seem to happen by chance.
Possible causes in genetic females
Causes of ambiguous genitalia in a genetic female may include:
- Congenital adrenal hyperplasia. Certain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens).
- Prenatal exposure to male hormones. Certain drugs
that contain male hormones or that stimulate production of the male
hormones in a pregnant woman can cause developing female genitals to
become more masculine. Examples include progesterone, which is a
medication sometimes taken in the early stages of pregnancy, and
anabolic steroids. A developing baby may also be exposed to excess male
hormones if the mother has a disease or condition that causes hormone
imbalance.
- Tumors. Rarely, a tumor in the mother can produce male hormones.
Causes of ambiguous genitalia in a genetic male may include:
- Impaired testicle development. This may be due to genetic abnormalities or unknown causes.
- Congenital adrenal hyperplasia. Certain forms of this genetic condition can impair production of male hormones.
- Androgen insensitivity syndrome. In this condition, developing genital tissues don't respond normally to male hormones.
- Abnormalities with testes or testosterone. Various abnormalities can interfere with the testes' activity. This may include structural problems with the testes, problems with production of the male hormone testosterone or problems with cellular receptors that respond to testosterone.
- 5a-reductase deficiency. This enzyme defect impairs normal male hormone production.
Complications of ambiguous genitalia may include:
- Infertility. Whether people with ambiguous
genitalia can have children depends on the specific diagnosis. For
example, genetic females with congenital adrenal hyperplasia usually can
get pregnant if they so choose.
- Increased risk of certain cancers. Some disorders of sex development are associated with an increased risk of certain types of cancer.
Once you and your doctor have chosen a gender for your baby, you may opt to begin treatment for ambiguous genitalia. The goal of treatment is to ensure sexual function and fertility, as well as long-term psychological and social well-being. When to begin treatment depends on your child's specific situation.
Medications
Hormone medications may help correct the hormonal imbalance. In some children, hormones may be administered shortly after birth and may be the only treatment necessary. 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 shrink the tissue close to a normal size. Other children may take hormones around the time they would normally undergo puberty.
Surgery
In children with ambiguous genitalia, surgery may be used to:
- Preserve normal sexual function
- Create more natural-looking genitals
For girls with ambiguous genitalia, the sex organs often 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 improve appearance and make erections possible.
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.
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