What is Ambiguous Genitalia?
Ambiguous genitalia is a rare disorder, in this condition the child’s gender is not clearly visible. This disorder makes the child look like they have dual genders, namely male and female.
This condition can also occur in inconsistency between external sexual organs and internal sexual organs or genetic sexual status. Generally, ambiguous genitalia can be seen from birth and can cause stress for family members of sufferers.
In early fetal development, the tissue that will become the gonads (ovaries or testes) is not yet differentiated and has the potential to become ovaries or testes, depending on the fetus’ genetics.
Humans have 46 chromosomes in each cell of their body, or 23 pairs. The 23rd pair determines the sex of a person. Females have two X chromosomes, while males have one X and one Y chromosome. The chromosome complement in humans is written: 46, XX, a normal female or 46, XY, a normal male.
Symptoms of Ambiguous Genitalia
Ambiguous genitalia can be assessed from the first time the baby is born. Sometimes, ambiguous genitalia can be suspected before birth when certain supporting examinations are performed. Some of the symptoms include:
In babies who have a female genetic structure (with two X chromosomes):
- A lump that feels like a testicle on the closed labia.
- An enlarged clitoris, which may resemble a penis.
- Closed labia, or labia that are folded and resemble a scrotum.
In babies who have a male genetic structure (with one X chromosome and one Y chromosome):
- A scrotum without testicles and shaped like labia with or without a micropenis, or a very small penis.
- The absence of one or both testicles in a structure resembling the scrotum.
- Very small penis size with the tip of the urethra close to the scrotum.
- The urethra does not extend to the tip of the penis (hypospadias).
Risk Factors for Ambiguous Genitalia
Some risk factors that increase the possibility of a baby being born with ambiguous genitalia include:
- Genital abnormalities.
- Congenital adrenal hyperplasia, which is an inherited genetic disorder that affects the adrenal glands.
- Infertility, absence of menstruation, or excessive facial hair in women.
- Abnormalities in physical development during puberty.
- Death in infancy without an obvious cause.
Causes of Ambiguous Genitalia
Ambiguous genitalia can be caused by hormonal imbalance during pregnancy, which disrupts the development of the fetus’ sexual organs.
Disturbances in the stages that determine the sex of the fetus can cause a discrepancy between the appearance of the external genitalia in the baby and the internal sexual organs, or the genetic sex status (XX or XY).
The genetic sex of a baby is determined at conception, based on the sex chromosomes. The mother’s egg contains an X chromosome, and the father’s sperm contains both an X and a Y chromosome.
If at the time of conception, the fetus inherits one X chromosome from the father and one X chromosome from the mother, then the fetus has two XX chromosomes, so it is female.
Meanwhile, if the fetus receives one X chromosome from the mother and one Y chromosome from the father, then the fetus has XY chromosomes and is male.
Male and female sex organs develop from the same tissue. Whether this tissue becomes male or female organs depends on the chromosomes and the presence or absence of male hormones.
- In males, a region on the Y chromosome triggers the development of the testes, which produce male hormones. Male genitalia develop in response to male hormones and fetal testes.
- In fetuses without a Y chromosome (without the effects of male hormones), the genitals develop as female.
Causes of ambiguous genitalia in fetuses that have a female genetic structure include:
- Chromosomal abnormalities.
- Genetic disorders, such as congenital adrenal hyperplasia.
- Exposure to male hormones during pregnancy.
- A tumor in the mother that triggers the production of male hormones.
Causes of ambiguous genitalia in fetuses that have a male genetic structure include:
- Chromosomal abnormalities.
- Inherited genetic disorders.
- Abnormalities in the testes or testosterone.
- Androgen insensitivity syndrome.
Diagnosis of Ambiguous Genitalia
Ambiguous genitalia can usually be diagnosed at birth or shortly afterward. The medical team assisting with the delivery can immediately observe signs of ambiguous genitalia in a newborn. Next, the doctor will do several things to determine the underlying cause.
The doctor will begin by conducting a complete medical interview with the baby’s family, regarding the family’s medical history and the mother’s pregnancy history.
Next, the doctor will perform a thorough physical examination. The doctor will also ask for some necessary supporting examinations.
These steps are taken to help with the handling and decision-making regarding the baby’s gender. Some common supporting examinations performed to help determine the gender of a baby with ambiguous genitalia include:
- Blood tests to measure hormone levels.
- Blood tests to analyze chromosomes and determine genetic sex status (XX or XY) or screen for single gene disorders.
- X-ray examination using contrast dye to help clarify the anatomical structure of the reproductive tract in infants.
- Ultrasonography of the pelvic cavity and abdomen to evaluate for the presence of undescended testes, the presence of a uterus, or the presence of a vagina.
Ambiguous Genitalia Treatment
The first step before treatment begins is to identify the cause of ambiguous genitalia. Then the health worker will arrange the treatment to be carried out and determine the sex based on hormone tests and other test results.
In the treatment of ambiguous genitalia, apart from the doctor, parents may also be advised to consult with other specialists. Examples include neonatologists, geneticists, endocrinologists, surgeons, urologists and psychologists. These experts can help advise which treatment is best for the baby.
Once the doctor or the baby’s parents have decided on the baby’s sex, the doctor will begin treatment steps that aim to:
- Facilitates sexual function and maintains sexual fertility in children as adults.
- Maintaining children’s social interactions in society as they grow.
- Maintaining the child’s psychological condition.
Some of the steps that doctors will take include:
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Operation
Ambiguous genitalia surgery involves doctors from various specialties. The goal is to maintain the child’s sexual function, as well as shape the external genitalia to appear more normal.
In girls, surgery can be performed if the vagina is hidden under the skin. Meanwhile, for boys, surgery can be performed to reconstruct the incomplete penis structure so that it looks normal and can function properly.
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Administration of hormone therapy
Hormone therapy is given to babies with ambiguous genitalia caused by hormonal imbalance, with the aim of balancing reproductive hormones. Some children with ambiguous genitalia may take hormone medication while they are in puberty.
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Child psychology consultation
Child psychology consultation sessions are conducted to maintain the child’s mental development. Parents are not advised to direct their children as boys or girls until the child’s gender can be determined with certainty.
Ambiguous Genital Complications
Complications that can occur in people with ambiguous genitalia include:
- Infertility. The potential for people with ambiguous genitalia to have children depends on the specific diagnosis. For example, genetic women with congenital adrenal hyperplasia can usually become pregnant if they want to.
- Increased risk of certain cancers. Some disorders of sex development are associated with an increased risk of certain types of cancer.
Prevention of Ambiguous Genitalia
Until now, there is no specific method to prevent ambiguous genitalia. However, mothers can try to prevent it by having regular check-ups during pregnancy.
Especially if you have a family history of risk of ambiguous genitalia. Also pay attention to the medicines and vitamins consumed, try to always consult a doctor first.