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

Ambiguous genitalia or conditions of s*x development (DSD) is an unusual s*xual development condition, where the baby's s*x becomes uncertain, specifically whether he is man or female. In babies that experience this problem, the genitals are not fully formed so that the baby can have man and female genitals. Additionally, the external genitals may not suit the interior genital body organs or with the baby's s*xual chromosome.

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

Ambiguous genitalia in babies can be triggered by various points, either because of chromosomal abnormalities or abnormalities in hormonal agents. Abnormalities of s*xual development because of chromosome numbers usually occur if an infant experiences an absence or extra of chromosomes in his cells, such as Turner disorder and Klinefelter disorder. Abnormalities of s*xual development because of hormonal agents are usually associated with abnormalities in the manufacturing of hormonal agents or the level of sensitivity of s*xual body organs throughout the womb to these hormonal agents.

Often the ambiguous genitalia doesn't threaten the lives of infants experiencing from these conditions. However, bear in mind that s*xual conditions can cause social problems, great for infants when maturing and for families.

Reasons for Ambiguous Genitalia

The reasons for ambiguous genitalia are various for boys and women. It should be kept in mind that the main consider determining the s*x of an infant is the presence of the Y chromosome that determines the man s*x. If there's a Y chromosome on a fetal cell, after that the s*x of the fetus is man. Whereas if there's no Y chromosome, the fetus will become a lady.

Normally, guys will have 22 sets of body chromosomes (autosomes) and 1 set of s*x or s*x chromosomes, specifically XY. Whereas ladies will have 22 sets of autosomes and 1 set of s*x chromosomes specifically XX. Klinefelter disorder occurs when a guy experiences an extra of the X chromosome to become XXY. Whereas Turner disorder occurs when ladies lack the X chromosome to become XO.

Additionally, the s*x of the baby can also be affected by the fetus's reaction to man s*x hormonal agents, specifically testosterone. Therefore, a person's s*x development can also be affected although the mapping of the chromosomes is correct, ie 46 XY for guys and 46 XX for ladies. Listed below is the reason for the ambiguous genitalia or conditions of s*x development (DSD) that occurs inaccurate s*x chromosome mapping, both for women and men.

The reasons for ambiguous genitalia in guys, consisting of:

• Conditions of testicular development. Testicular development in man unborn children can be disrupted by certain factors, such as hereditary abnormalities or various other unidentified causes.
• Shortage of the 5A-Reductase enzyme. The 5A-reductase enzyme contributes in the development of androgen hormonal agents that motivate the development of man genital body organs. The lack of these enzymes can cause the manufacturing of man s*x hormonal agents to be disrupted and cause the man genital body organs not to develop properly.
• Insensitivity disorder to androgens. This problem is triggered by the genital reaction of man unborn children that are not conscious androgen hormonal agents. Although the manufacturing of androgen hormonal agents in the testes isn't disrupted, because of insensitivity to androgens, the development of their genital body organs can be disrupted.
• Abnormalities in the testes and testosterone. Testicles and various other man genital body organs can be disrupted by various factors, both through body organ framework conditions, interruption of hormonal agent manufacturing, and hormonal agent receptor conditions.
  

The reasons for ambiguous genitalia in ladies consist of:

• Take medications containing androgen hormonal agents by expecting ladies. Some medications include androgen hormonal agents so that if consumed by expecting ladies can cause a women fetus being developed subjected to androgen hormonal agents. This problem causes the female genital body organs of a developing fetus to include man s*x qualities. Additionally, hormone imbalances in expecting ladies can also cause female unborn children to be subjected to hormonal agents that trigger the incident of ambiguous genitalia.
• Tumor. Growths in expecting ladies that produce man s*x hormonal agents can affect the development of female genital body organs.
• Congenital adrenal hyperplasia. Congenital adrenal hyperplasia is a hereditary hereditary problem that shows up in expecting ladies. Adrenal hyperplasia causes the mom to produce excessive androgen hormonal agents, triggering s*xual development abnormalities in the female fetus.
  

Previously, points that increase the risk of a fetus experiencing ambiguous genitalia are still being examined. Presumably family background has a role in enhancing the risk of abnormalities in s*xual development in the fetus. Some background of the illness in the family listed below is believed to increase the risk of the fetus experiencing ambiguous genitalia or DSD, consisting of:

• Child death is unclear why.
• Genital body organ abnormalities.
• Congenital adrenal hyperplasia.
• Infertility or infertility, lack of menstruation, or the development of extra hair on the face in ladies.
• Experiencing physical development abnormalities throughout adolescence.

Ambiguous Signs of Genitalia

Ambiguous genitalia in babies can sometimes be known when the baby is still in the womb, or known later on when the baby is birthed. The seriousness of the ambiguous genitalia in an infant depends on the cause and time of the incident of the s*xual condition.

Typically, ambiguous genitalia in babies that are genetically female (having actually 22 autosomes and XX s*x chromosomes) can be determined by the following indications:

• The labia are shut and swollen so that it seems like a scrotum with the testicles.
• Enlargement of the clitoris so that it appearances such as a small penis.
• The urinary system can lie over the clitoris, under the clitoris, or in the clitoral location itself.
• Often an infant woman with this problem is believed to be an infant boy with cryptorchism.

Ambiguous genitalia in babies that are genetically man (having actually 22 autosomes and XY gonosome) can be determined by the following indications:

• Hypospadias.
• The penis is unusual and small in dimension, and the urinary system lies shut to the scrotum.
• The loss of one or both testicles from the scrotum or the thought scrotum.
• Scrotum that appearances such as a labia with cryptorchidism, with or without a small penis.

Ambiguous Medical diagnosis of Genitalia

Doctors and health and wellness employees that help shipments can acknowledge infants that experience ambiguous genitalia as quickly as the baby is birthed. After discovering that the baby is experiencing ambiguous genitalia, the doctor will speak with the baby's moms and dads to identify the reason for the s*xual development condition in the baby. To determine the exact reason for ambiguous genitalia, several points that will be done by doctors, consisting of:

Ask about the clinical background of both moms and dads and family.

• Perform a physical exam of the baby to inspect the framework of the baby's s*x body organs.
• Conduct a baby's blood test to measure hormonal agents and various other compounds that affect a baby's s*xual development, such as:

• Endocrine hormone.
• Androgen receptors.
• Enzyme 5A reductase.
• Baby electrolyte conditions.

• Perform chromosome inspects to determine the hereditary sex of the baby. Chromosome inspecting is done by evaluating blood examples drawn from the baby.
• Perform evaluation of the baby's genital body organs using ultrasound, X-ray pictures (genitography), CT check, or
• Analyze examples of the internal genital body organs of the baby. Cells examples can be taken through the treatment. This technique can determine whether there's ovarian cells, testicular cells, 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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