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Ambiguous Genitalia, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

Ambiguous genitalia or disorders of s*x development (DSD) is a rare s*xual development disorder, where the baby's s*x becomes unclear, namely whether he is male or female. In infants who experience this condition, the genitals are not fully formed so that the baby can have male and female genitals. In addition, the external genitals may not match the internal genital organs or with the baby's s*xual chromosome.

Ambiguous Genitalia, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

Ambiguous genitalia in infants can be caused by various things, either due to chromosomal abnormalities or abnormalities in hormones. Abnormalities of s*xual development due to chromosome numbers usually occur if a baby experiences a lack or excess of chromosomes in his cells, such as Turner syndrome and Klinefelter syndrome. Abnormalities of s*xual development due to hormones are usually associated with abnormalities in the production of hormones or the sensitivity of s*xual organs during the womb to these hormones.

Often the ambiguous genitalia does not endanger the lives of babies suffering from these disorders. However, keep in mind that s*xual disorders can cause social problems, good for babies when growing up and for families.

Causes of Ambiguous Genitalia

The causes of ambiguous genitalia are different for boys and girls. It should be noted that the main factor in determining the s*x of a baby is the existence of the Y chromosome that determines the male s*x. If there is a Y chromosome on a fetal cell, then the s*x of the fetus is male. Whereas if there is no Y chromosome, the fetus will become a woman.

Normally, men will have 22 pairs of body chromosomes (autosomes) and 1 pair of s*x or s*x chromosomes, namely XY. Whereas women will have 22 pairs of autosomes and 1 pair of s*x chromosomes namely XX. Klinefelter syndrome occurs when a man experiences an excess of the X chromosome to become XXY. Whereas Turner syndrome occurs when women lack the X chromosome to become XO.

In addition, the s*x of the baby can also be affected by the fetus's response to male s*x hormones, namely testosterone. Therefore, a person's s*x development can also be affected even though the mapping of the chromosomes is correct, ie 46 XY for men and 46 XX for women. Below is the cause of the ambiguous genitalia or disorders of s*x development (DSD) that occurs incorrect s*x chromosome mapping, both for men and women.

The causes of ambiguous genitalia in men, including:

  • Disorders of testicular development. Testicular development in male fetuses can be disrupted by certain factors, such as genetic abnormalities or other unknown causes.
  • Deficiency of the 5A-Reductase enzyme. The 5A-reductase enzyme plays a role in the formation of androgen hormones that encourage the development of male genital organs. The lack of these enzymes can cause the production of male s*x hormones to be disrupted and cause the male genital organs not to develop properly.
  • Insensitivity syndrome to androgens. This condition is caused by the genital response of male fetuses that are not sensitive to androgen hormones. Although the production of androgen hormones in the testes is not disturbed, due to insensitivity to androgens, the development of their genital organs can be disrupted.
  • Abnormalities in the testes and testosterone. Testicles and other male genital organs can be disrupted by various factors, both in the form of organ structure disorders, disruption of hormone production, and hormone receptor disorders.

The causes of ambiguous genitalia in women include:

  • Take drugs containing androgen hormones by pregnant women. Some drugs contain androgen hormones so that if consumed by pregnant women can cause a female fetus being conceived exposed to androgen hormones. This condition causes the female genital organs of a developing fetus to contain male s*x characteristics. In addition, hormonal imbalances in pregnant women can also cause female fetuses to be exposed to hormones that trigger the occurrence of ambiguous genitalia.
  • Tumor. Tumors in pregnant women that produce male s*x hormones can affect the development of female genital organs.
  • Congenital adrenal hyperplasia. Congenital adrenal hyperplasia is a congenital genetic condition that appears in pregnant women. Adrenal hyperplasia causes the mother to produce excessive androgen hormones, causing s*xual development abnormalities in the female fetus.

Until now, things that increase the risk of a fetus experiencing ambiguous genitalia are still being studied. Allegedly family history has a role in increasing the risk of abnormalities in s*xual development in the fetus. Some history of the disease in the family below is thought to increase the risk of the fetus experiencing ambiguous genitalia or DSD, including:
  • Child mortality is not clear why.
  • Genital organ abnormalities.
  • Congenital adrenal hyperplasia.
  • Infertility or infertility, absence of menstruation, or the growth of excess hair on the face in women.
  • Experiencing physical development abnormalities during puberty.

Ambiguous Symptoms of Genitalia

Ambiguous genitalia in infants can sometimes be known when the baby is still in the womb, or only known later when the baby is born. The severity of the ambiguous genitalia in a baby depends on the cause and time of the occurrence of the s*xual disorder.

Generally, ambiguous genitalia in infants who are genetically female (having 22 autosomes and XX s*x chromosomes) can be identified by the following signs:

  • The labia are closed and swollen so that it feels like a scrotum with the testicles.
  • Enlargement of the clitoris so that it looks like a small penis.
  • The urinary tract can be located above the clitoris, under the clitoris, or in the clitoral area itself.
  • Often a baby girl with this condition is thought to be a baby boy with cryptorchism.

Ambiguous genitalia in infants who are genetically male (having 22 autosomes and XY gonosome) can be identified by the following signs:
  • Hypospadias.
  • The penis is abnormal and small in size, and the urinary tract is located close to the scrotum.
  • The loss of one or both testicles from the scrotum or the suspected scrotum.
  • Scrotum that looks like a labia with cryptorchidism, with or without a small penis.

Ambiguous Diagnosis of Genitalia

Doctors and health workers who help deliveries can recognize babies who experience ambiguous genitalia as soon as the baby is born. After finding out that the baby is experiencing ambiguous genitalia, the doctor will consult with the baby's parents to diagnose the cause of the s*xual development disorder in the baby. To determine the exact cause of ambiguous genitalia, several things that will be done by doctors, including:

  • Inquire about the medical history of both parents and family.
  • Carry out a physical examination of the baby to check the structure of the baby's s*x organs.
  • Conduct a baby's blood test to measure hormones and other substances that affect a baby's s*xual development, such as:
    • Endocrine hormone.
    • Androgen receptors.
    • Enzyme 5A reductase.
    • Baby electrolyte conditions.
  • Perform chromosome checks to determine the genetic gender of the baby. Chromosome checking is done by analyzing blood samples taken from the baby.
  • Perform examination of the baby's genital organs using ultrasound, X-ray photos (genitography), CT scan, or
  • Analyze samples of the inner genital organs of the baby. Tissue samples can be taken through the procedure. This method can determine whether there is ovarian tissue, testicular tissue, or both (ovotestis).

After the diagnosis is made, the doctor will inform parents about the s*x of the baby genetically, the anatomical abnormalities of the reproductive organs that occur in the baby and its causes, and reproductive potential when the baby becomes an adult. If s*x is difficult to determine, then the doctor will ask the family to determine it. But be aware that when a child grows up, he can choose different s*x. To determine gender, the family is strongly advised to wait until the results of the doctor's tests are completed.

Ambiguous Genitalia Treatment

After the baby's doctor or parent decides the s*x for the baby, the doctor can start treating the baby. The goals of the baby's treatment are to:
  • Facilitating s*xual function and maintaining s*xual fertility of the child when he is an adult.
  • Maintain children's social interaction in the community when he grows up.
  • Maintain a child's psychological condition.

Baby genital surgery is generally done as a method of treating ambiguous genitalia babies. Because this s*xual development disorder is quite rare, often surgery is done by involving doctors from various fields of specialization. Surgery is carried out with the aim of maintaining a child's s*xual function, as well as forming an external genital organ to make it look more normal.

In girls, the function of the inner reproductive organs is often normal, even though the external reproductive organs look ambiguous. If the baby's vagina is covered by the skin, surgery can be done to help maintain s*xual function later. In boys, surgery is done to improve the structure of the penis so that it can maintain the erectile function of the penis when the child becomes an adult.

If the ambiguous genitalia in a baby is caused by a hormonal imbalance and continues when the baby grows, the baby can be given hormone therapy to balance reproductive hormones. For example in girls with congenital adrenal hyperplasia that has enlarged clitoris, hormones can be given to reduce the size of the clitoris. Giving hormones can also be done during puberty.

In order for the psychological condition and mental development of children with s*xual development disorders to be maintained, it is best to do a child psychology consultation. In addition, it is recommended that parents do not direct their children as men or women so that the s*x of the child can be determined with certainty.
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