The 17-OH-Progesterone test is one of the tests that help screen and diagnose a patient's congenital adrenal hyperplasia, also known as CAH. This is a recessive genetic disease that greatly affects the health of the patient's baby. Typically, early puberty or masculinization of the body. The following article will provide you with information regarding the 17-OH-Progesterone test.
What Is The Definition Of 17-OH-Progesterone?
17-OH-Progesterone is an endogenous steroid hormone. This hormone is excreted in the cholesterol metabolism chain to aldosterone, cortisol, and testosterone of the adrenal cortex.
In it, the hormone cortisol is a hormone that has a great effect on the hydrolysis of proteins, glucose, and fats. In addition, cortisol also helps to stabilize blood pressure and the immune system in the body.
Therefore, this hormone plays a very important role. It is catalyzed by many different enzymes, the most special one being the 21-hydroxylase enzyme. Therefore, if one of these enzymes is deficient, it will affect the production of cortisol.
17-OH-Progesterone is a precursor to cortisol, so when it is in deficiency, it causes stagnation in the blood. If this condition persists, it will cause an excess of androgen hormones produced by the adrenal glands.
From there, causing the monetization phenomenon. All male biology will develop in both men and women. Therefore, it is necessary to do a 17-OH-Progesterone test early to accurately diagnose the condition of adrenal hyperplasia.
Overview Of Congenital Upper Kidney Hyperplasia
Congenital adrenal hyperplasia is a condition that occurs when a group of genetic disorders affects the adrenal glands. Congenital adrenal hyperplasia will cause the patient not to have enough necessary enzymes.
From there, it affects the production of one or more steroid hormones such as cortisol, mineralocorticoids, androgens like testosterone. The disease seriously affects the normal development of the child, even life-threatening if not detected and treated early.
Causes of congenital adrenal hyperplasia
A genetic mutation of the CYP21A2 gene is the most common cause of congenital adrenal hyperplasia. Because when the CYP21A2 gene is mutated, the patient's body will lead to a deficiency of the 21-hydroxylase enzyme. From there, making the blood has an excess of 17-OHP.
The severe case is due to a severe deficiency of the enzyme 21-hydroxylase. That impacts and directly affect the excess androgen hormone. It will cause a baby girl to be born with unclear genitalia.
This will cause a lot of difficulties in determining the sex of the baby at birth. When growing up, women will exhibit clitoral enlargement, amenorrhea, or irregular menstruation. The body begins to show signs of masculinity.
Conversely, if men have this condition, when growing up will show signs of puberty early in childhood. In addition, due to a deficiency of the 21-hydroxylase enzyme, the body of men and women will show salt retention due to the amount of aldosterone produced.
If this condition lasts for a long time, it will adversely affect the patient's health, even cause death. Therefore, newborn screening and 17-OH-Progesterone testing are necessary to detect the disease early.
In mild forms due to lack of enzymes, or atypical CAH forms, there will be later onset symptoms and these symptoms can occur in childhood or adulthood.
Usually, these symptoms are often atypical and rather vague, making them difficult to develop. Although CAH is not too dangerous, it directly affects the growth and development of young children during puberty. It can even cause infertility in children entering adulthood. Therefore, it is necessary to do newborn screening tests to detect the disease early.
Symptoms of congenital adrenal hyperplasia
Based on the child's symptoms, parents can have their child tested early. From there, it is possible to limit the dangerous complications caused by this disease.
If a baby has congenital adrenal hyperplasia, symptoms like:
- Frequent vomiting and persistent diarrhea. Weight gain slowly.
- A girl's genitals show abnormalities such as a large, long clitoris that looks like a man's penis. The image of large lips, baby lips on the genitals are attached and wrinkled like scrotum on a boy's penis. In other cases, the urinary tract and vagina may share the same hole.
- In boys, there will be symptoms such as an enlarged penis and a larger than normal size compared to babies of the same age. The scrotum is darker.
- Show puberty earlier than age.
What Is The 17-OH-Progesterone Test?
This is the newborn screening test to diagnose congenital adrenal hyperplasia (CAH). Usually, when a child presents with congenital adrenal hyperplasia will be ordered to do this test to evaluate.
The purpose of the 17-OH-Progesterone test is to diagnose and confirm a child's condition with CAH and to do this test will take venous blood to check.
If you want to do a newborn screening test, you will take blood from the heel of the baby 2-7 days after the baby is born. The medical staff will take blood from the baby's heel and blot it into the blotting paper for a few drops to be tested.
This test order will be given when the baby is assessed as a high risk for CAH through the signs and manifestations of the disease. In addition, if a newborn has a severe salt loss, a 17-OH-Progesterone test is needed to assess and rule out the risk of disease.
Men with pre-age puberty also need an early 17-OH-Progesterone test.
When Should 17-OH-Progesterone Test Be Done?
In the following cases, a 17-OH-Progesterone test should be performed when there are signs of adrenal hyperplasia. You need to get a 17-OH-Progesterone test as soon as possible.
In addition, in the case of newborn screening, this test method will also be used to eliminate the risk of disease in the baby.
In other cases, if the body is constantly tired, dehydrated, lost salt and blood pressure often drops, a 17-OH-Progesterone test should also be done.
In addition, men with early puberty should also be tested for 17-OH-Progesterone.
Clinical Implications For 17-OH Progesterone Testing
Depending on whether the test is to diagnose or screen the newborn, the normal value will vary.
- If newborn screening is used, the reading for weight> 2500g is 0-30 nmol / l.
- In the case of 17-OH-Progesterone testing to diagnose disease, a concentration of 0-200 ng/dl is considered to have a normal range.
- If the concentration is greater than 300 ng/dl, it can be confirmed that the person has CAH. In cases where the concentration is in the range of 200-300 ng/dl, the patient will be ordered to have an additional ACTH stimulation test besides observing the symptoms and clinical manifestations from which to evaluate and evaluate the results.
The 17-OH-Progesterone test is a modern test for the early detection of a child's congenital adrenal hyperplasia through postpartum screening and a heel blood draw test. From there, there are directions to treat and limit the possible dangers to the health of the child if the disease is accidentally caught.
Currently, there are many specialist medical facilities that offer 17-OH-Progesterone testing to choose from. However, to ensure technical problems and accurate results, you should seek reputable medical facilities with quality services and modern equipment for testing. Thus, it will be able to accurately predict the condition if there is a risk of it.
Hopefully, the useful information shared above will help you better understand congenital adrenal hyperplasia and the 17-OH-Progesterone test so you can better understand the disease and know when to need it. have to do this test.
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