Amibigous genitalia or double sex is a condition when the shape of the genitals or genitals is not clear, so it looks like they have dual sex, namely female and male. This condition is caused by abnormalities in the development of the genital organs when the baby is still in the womb.
Ambiguous genitalia is quite rare. This condition can be caused by hormonal disorders during pregnancy or due to chromosomal abnormalities. Multiple sexes are part of the condition sexual development disorder (DSD).
Generally, ambiguous genitalia are harmless. However, this condition can cause sufferers to experience psychological and social problems as adults. Even so, if the cause is an abnormality in the adrenal glands (congenital adrenal hyperplasia), multiple sexes need immediate treatment.
Causes of Ambiguous Genitalia
Ambiguous genitalia is caused by impaired development of the genital organs while the baby is still in the womb. As a result, when the baby is born, the sex that is formed becomes unclear. Please note that the sex of the baby is determined by the combination of the chromosomes of the father's sperm cell and the mother's egg cell at conception.
For example, if at conception the fetus receives one X chromosome from the father and one X chromosome from the mother, the fetus will have two XX chromosomes and will be female. If the fetus receives one X chromosome from the mother and one Y chromosome from the father, then the fetus will have an XY chromosome and will be male.
Hormonal disorders of the mother during pregnancy or genetic disorders in the baby can cause ambiguous genitalia. However, in some cases, the cause of double sex is not known with certainty.
In babies who are genetically male, there are several conditions that can cause multiple sexes, namely:
- Failure of testicular formation due to genetic disorders
- Lack of 5A-reductase enzyme, which is an enzyme that plays a role in the formation of androgen hormones in male babies
- Androgen insensitivity syndrome due to lack of response of the body to androgen hormones
- Abnormalities in the structure and function of the testes or the production of the hormone testosterone
While the causes of ambiguous genitalia in babies who are genetically female are:
- There is excessive exposure to androgen hormones during pregnancy, for example due to pregnant women taking drugs containing androgen hormones
- The presence of a tumor that interferes with the performance of hormones in the development of female sex organs
- Congenital adrenal hyperplasia, which is a genetic condition that causes the production of androgen hormones to occur in excess
Pregnant women who have had a previous miscarriage or have a family member with ambiguous genitalia are more at risk of having a baby with this condition.
Symptoms of Ambiguous Genitalia
Amibigous genitalia can be detected when the baby is still in the womb or when the baby is born. If the baby has ambiguous genitalia, the gender is unclear and looks like multiple sexes. As a result, it will be difficult to determine whether the baby born is a girl or a boy.
Some signs or symptoms that can be seen when a baby has ambiguous genitalia are:
On baby girl
- The labia are closed and swollen, so it looks like the scrotum
- The clitoris enlarges, so it looks like a small penis
- Urinary tract hole (urethra) is around the clitoris, can be right on the clitoris or under the clitoris
In baby boy
- The location of the urinary tract is below (hypospadias)
- Penis is small or looks like an enlarged clitoris
- Absence of testes in the testicles or scrotum (cryptochismus)
- The part that should be the scrotum looks like the labia
When to go to the doctor
Pregnant women need to have regular prenatal checkups according to the schedule determined by the doctor. That way, the development of the fetus and the condition of pregnant women can be continuously monitored.
Ambiguous genitalia can be detected by doctors when a newborn is born. If you do not give birth at the doctor and your baby seems to have abnormalities as described above, immediately take him to the doctor so that he can be examined to determine the cause and given the right treatment.
Ambiguous Genitalia Diagnosis
If the baby is born with ambiguous genitalia, the doctor will ask about the mother's medical history during pregnancy, including the medications or supplements she took. After that, the doctor will perform a thorough examination of the baby.
To confirm the diagnosis, the doctor will perform several supporting examinations, such as:
- Blood tests, to assess levels of hormones and enzymes that affect the development of the baby's genital organs, such as testosterone, androgen receptors, the enzyme 5A reductase
- Chromosomal examination, to determine the genetic sex of the baby
- Scan with ultrasound, to confirm the location of the testes in babies with cryptokismus
- Biopsy by taking a sample of the baby's genital tissue, to determine whether there is ovarian tissue, testicular tissue, or both (ovotestis)
After confirming the diagnosis, the doctor will inform parents about the genetic sex of the baby, what abnormalities occur in the baby, and the risks that can occur in the future.
Ambiguous Genitalia Treatment
Treatment of ambiguous genitalia aims to maintain sexual function and fertility of the sufferer when he is an adult, prevent social pressure from society, and maintain the psychological condition of the sufferer.
Some of the treatment options that can be done to treat ambiguous genitalia are:
Operation
Surgery is the main method of treating amibigous genitalia. The purpose of the operation is to maintain the child's sexual function and to shape the external appearance of the genital organs so that they look normal.
In girls, often the function of the internal reproductive organs is still normal, even though there are abnormalities in the shape of the external genital organs. If the vagina is covered by skin, the doctor will perform surgery to create a vaginal opening.
In boys, surgery is performed to improve the shape of the penis so that it can maintain erectile function as the child grows up.
Therapy
If amibigous genitalia is caused by hormonal disorders, the doctor will give hormone therapy to the baby to balance hormone levels in his body. Hormone therapy can also be done at puberty.
Ambiguous Genitalia Complications
If not treated immediately, ambiguous genitalia can increase the risk of the following conditions:
- Infertility or infertility
- Orgasm disorders
- Cancer, including testicular cancer
- Psychic disorders
Ambiguous Genitalia Prevention
Ambiguous genitalia is difficult to prevent. However, pregnant women can take the following steps to reduce the risk of abnormalities in the fetus:
- Living a healthy lifestyle during pregnancy, such as eating a healthy and balanced diet, not smoking, and not consuming alcoholic beverages
- Perform routine pregnancy check-ups and take supplements according to doctor's advice
- Do not use drugs or supplements carelessly, especially drugs that contain hormones
