Ambiguous Genitalia or disorders of sex development ( DSD ) is a rare sexual development disorder, in which the baby's genitals become unclear, ie whether he is male or female. In infants with this condition, the genitals are not perfectly formed so that the infant can have male and female sex signs. In addition, the outer genitals may not match the internal genital organs with the baby's sexual chromosomes.
Ambiguous genitalia in infants can be caused by many things, either due to chromosomal abnormalities or hormonal abnormalities. Sexual developmental abnormalities due to the number of chromosomes usually occur when an infant has a deficiency or excess chromosome in his cell, such as Turner's syndrome and Klinefelter's syndrome . Abnormalities of sexual development due to hormones are usually associated with abnormalities in the production of hormones or sensitivity of sexual organs during the content of the hormone.
Often amibigous genitalia does not endanger the lives of babies who suffer from the disorder. However, keep in mind that these sexual disorders can cause social problems, both for the baby at the time of growing up and for the family.
The Causes of Ambiguous Genitalia
Causes of different genital ambiguous for both male and female infants. It should be noted that the main factor in determining the sex of a baby is the presence of a Y chromosome that determines the sex of a male. If the fetal cells have a Y chromosome, then the sex of the fetus is male. Whereas if there is no Y chromosome, then the fetus will become female.
Normally, men will have 22 pairs of body chromosomes (autosomes) and 1 pair of sex or genital chromosomes XY. While women will have 22 pairs of autosomes and 1 pair of sex chromosomes XX. Klinefelter syndrome occurs when a man has an X chromosome excess to become XXY. While Turner syndrome occurs when women lack X chromosome to become XO.
In addition, the sex of the baby may also be affected by the fetal response to male sexual hormones, testosterone. Therefore, a person's genital development may also be affected although the mapping of the chromosome is correct, ie 46 XY for males and 46 XX for females. Below is the cause of ambiguous genitalia or disorders of sex development (DSD) that occurs in the correct mapping of sex chromosomes, in both men and women.
The causes of ambiguous genitalia in men, among them are:
- Impaired progression of the testes. The development of the testes in a male fetus may be disrupted by certain factors, such as genetic disorders or other unknown causes.
- 5A-reductase enzyme deficiency. 5A-reductase enzyme plays a role in the formation of androgen hormones that promote the development of male genital organs. The deficiency of the enzyme may cause the production of male sexual hormones to be disrupted and cause male genital organs to develop poorly.
- Iensensivity syndrome to androgens. This condition is caused by the response of male genital organs that are insensitive to androgen hormones. Although the production of androgen hormones in the testes is not disturbed, but due to insensitivity to androgens, the development of the genital organ may be impaired.
- Abnormalities in the testes and testosterone. The testes and other male genital organs can be disrupted by various factors, either in the form of organ structural disorders, hormonal production disorders, or hormonal receptor disorders.
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The causes of ambiguous genitalia in women, among them are:
- Consumption of drugs containing androgen hormones by pregnant women. Some medicines exist that contain androgen hormones so that if consumed by pregnant women can cause the fetus of women who are being exposed to androgen hormones. This condition causes the female genital organs of developing fetus to contain male genital traits. In addition, hormonal imbalance of pregnant women can also cause a female fetus to be exposed to hormones that trigger the occurrence of amibigous genitalia.
- Tumors. Tumors in pregnant women that produce male sexual hormones can affect the development of female genital organs.
- Congenital adrenal hyperplasia. Congenital adrenal hyperplasia is a congenital genetic condition that occurs in pregnant women. Adrenal hyperplasia causes the mother to produce excess hormone androgen, causing abnormalities of sexual development in the female fetus.
Until now, things that increase the risk of a fetus having ambiguous genitalia are still being investigated. Suspected family history plays a role in increasing the risk of developing fetal development abnormalities in the fetus. Some family history of the disease below may increase the risk of having an ambiguous genitalia or DSD, among others:
- Unclear child mortality causes.
- Abnormalities of the sex organ.
- Congenital adrenal hyperplasia.
- Infertility or sterility, absence of menstruation, or excessive hair growth in the face in women.
- Experiencing a developmental abnormality during puberty.
Symptoms of Ambiguous Genitalia
Ambiguous genitalia in infants can sometimes be known when the baby is still in the womb, or only later known when the baby is born. The severity of the ambiguous genitalia in the infant depends on the cause and timing of the occurrence of the sexual disorder.
Generally, ambiguous genitalia in genetically female infants (having 22 autosomes and XX sex chromosomes) can be identified from the following signs:
- The labia is closed and swollen so it feels like a scrotum with the testes.
- Enlargement of the clitoris so it looks like a small penis.
- Urinary tract can be located above the clitoris, under the clitoris, or in the clitoris itself.
- Often the baby girl with the condition is suspected as a baby boy with cryptochism .
Ambiguous genitalia in genetically male infants (having 22 autosomes and XY gonosomes) can be identified from the following signs:
- Hypospadias .
- The abnormal and small penis, and the urinary tract is located close to the scrotum.
- Loss of one or both testes of the scrotum or the suspected part of the scrotum.
- The scrotum looks like a labia with cryptorchidism, with or without a small penis.
Diagnosis of Ambiguous Genitalia
Doctors and health workers who help deliver can recognize an ambiguous baby's genitalia soon after the baby is born. After knowing the baby is experiencing ambiguous genitalia, the doctor will consult with the infant's parent to diagnose the cause of such abnormal developmental abnormalities in the infant. To determine the exact cause of ambiguous genitalia, several things that the doctor will do, including:
- Ask about the medical history of both parents and family.
- Perform a physical examination on the baby to check the structure of the sex organ of the baby.
- Perform baby blood tests to measure hormones and other substances that affect the baby's sexual development, such as:
- Endocrine gland hormone.
- Androgen receptors.
- Enzyme 5A reductase.
- Baby's electrolyte condition.
- Checking the chromosome to determine the genetic gender of the baby. Chromosome checking is performed by analyzing blood samples taken from infants.
- Examining the baby's genital organs using ultrasound, X-ray (genitography), CT scan, or
- Analyze tissue samples of the genital organs of the baby. Sample tissue can be taken by procedure This method can determine whether there is a network of ovaries, testicular tissue, or both (ovotestis).
Treatment of Ambiguous Genitalia
After the doctor or parent of the baby decides the sex for the baby, the doctor can start treating the baby. The goals of infant treatment are to:
- Facilitate sexual functioning and preserve the sexual fertility of the child as he matures.
- Maintain the social interaction of children in the community as they grow.
- Maintain the child's psychological condition.
In girls, often the function of the internal reproductive organs is still normal, although the external reproductive organs appear ambiguous. If the baby's vagina is covered by the skin, surgery can be done to help maintain sexual function later. In boys, surgery is performed to improve penile structure so as to maintain erectile function of the penis as the child becomes mature.
If the amibigous genitalia in the baby is caused by hormonal imbalance and persists as the baby grows, the infant may be given hormone therapy to balance the reproductive hormone. For example, in girls with congenital adrenal hyperplasia with clitoral enlargement, hormones may be given to shrink the size of the clitoris. Hormonal administration can also be done during puberty.
In order for the psychological condition and mental development of children with abnormalities of sexual development is maintained, should be done psychological consultation of children . In addition, it is recommended that parents not direct their children as male or female, until the child's sex can be determined with certainty.