17-ALPHA-HYDROXYPROGESTERONE (17-OHP)

Understanding Congenital Adrenal Hyperplasia and the 17-OH Progesterone Test

Introduction to Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a hereditary disorder affecting the adrenal glands, small structures located on top of each kidney. These glands produce essential hormones such as cortisol, which regulates metabolism and the immune system, and aldosterone, which manages salt and water levels in the body. CAH primarily results from a deficiency in an enzyme necessary for cortisol production, leading to an accumulation of 17-hydroxyprogesterone (17-OH progesterone) and an overproduction of androgens (male sex hormones).

What are the Symptoms and Causes of Congenital Adrenal Hyperplasia (CAH)?

Symptoms:

CAH manifests differently in males and females, and symptoms vary in severity. Common symptoms include:

- Newborns: Ambiguous genitalia, pubic hair, acne, lack of energy, dehydration, vomiting, and low blood pressure.

- Males: Early onset of puberty, typically by age 2 or 3, well-defined muscles at a young age, large penis with small testes, and infertility.

- Females: Irregular periods, deep voice, genitalia with both male and female characteristics (more visually male-like), excessive and early hair growth, and infertility.

Causes:

CAH is caused by a genetic mutation affecting the adrenal glands' ability to produce cortisol. This enzyme deficiency results in a build-up of 17-OH progesterone, which is then converted into androgens, causing symptoms related to excess male hormones. The genetic mutation responsible for CAH is autosomal recessive, meaning both parents must carry and pass on the altered gene for the child to develop the disorder.

What Tests are Done to Diagnose Congenital Adrenal Hyperplasia (CAH)?

The primary test for diagnosing CAH involves measuring the levels of 17-OH progesterone in the blood. This test is often performed on newborns as part of routine screening to detect CAH early. Elevated levels of 17-OH progesterone indicate CAH, prompting further testing and monitoring. For infants, a heel prick is used to collect the blood sample, while older children and adults may have blood drawn from a vein in the arm.

Introduction to the 17-OH Progesterone Test

What is the 17-OH Progesterone Test?

The 17-OH progesterone test is a blood test that measures the levels of 17-hydroxyprogesterone in the blood. This hormone is produced by the adrenal glands and is a precursor to cortisol. The test helps detect congenital adrenal hyperplasia (CAH) and monitor the effectiveness of treatment in individuals with the disorder.

Who Should Get the 17-OH Progesterone Test Done?

The 17-OH progesterone test is recommended for:

- Newborns: As part of routine newborn screening to detect CAH early.

- Children and Adults: Individuals who develop symptoms of CAH later in life.

- Women: With symptoms such as irregular periods, deep voice, or genitalia with male and female characteristics.

- Men: Showing signs of early puberty, large penis with small testes, or infertility.

- Individuals with a Family History of CAH: Those with relatives diagnosed with CAH should consider getting tested, especially if planning to have children.

What Does the 17-OH Progesterone Test Measure?

The 17-OH progesterone test measures the concentration of 17-hydroxyprogesterone in the blood. Elevated levels of this hormone suggest a deficiency in the enzyme needed to produce cortisol, leading to a diagnosis of CAH. The expected results usually fall within the following ranges:

- Newborns: 1,000-3,000 nanograms per decilitre (ng/dL).

- Children Older than 24 Hours: Less than 100 ng/dL.

- Adults: Less than 200 ng/dL.

How to Prepare for the 17-OH Progesterone Test?

Preparation for the 17-OH progesterone test is straightforward and usually does not require any special measures. However, it is advisable to:

- Inform the Healthcare Provider: About any medications or supplements being taken, as they may affect the test results.

- Wear Comfortable Clothing: To allow easy access to the arm or hand for blood collection.

- Stay Hydrated: Drinking water can make veins more accessible for the blood draw.

- Remain Calm: Staying relaxed can help make the blood draw process smoother.

Frequently Asked Questions (FAQs)

What are the Symptoms of CAH in Newborn Babies?

Symptoms of CAH in newborns include ambiguous genitals, pubic hair, acne, lack of energy, dehydration, vomiting, and low blood pressure. If your newborn exhibits any of these symptoms, it is advisable to get them the 17-OH progesterone test as soon as possible.

Why is the CAH Disorder Harmful?

CAH can cause severe complications such as dehydration or shock in infants, which are life-threatening. It can also lead to an imbalance of electrolytes like potassium, potentially resulting in heart arrhythmias and cardiac arrest if left untreated.

What is the Primary Cause of CAH?

CAH is primarily caused by a decrease in cortisol levels and an increase in the 17-OH progesterone hormone in the blood. It is often due to genetic mutations occurring during a baby’s development in the womb.

Should I Get Tested for CAH if My Family Has a History of This Disorder?

If you have a family history of CAH, it is advisable to consult your healthcare provider about getting a 17-OH progesterone test. Since CAH is caused by an autosomal recessive genetic mutation, both parents must have an altered gene for the child to develop the disorder.

Where Can I Get the 17-OH Progesterone Test with Quick and Accurate Results?

Apollo 24/7 offers a comprehensive 17-OH progesterone test. The test costs around ?1500, and the results are usually available within 5 days.