17-Hydroxyprogesterone, LC/MS/MS Most Popular

The 17-Hydroxyprogesterone, LC/MS/MS test contains 1 test with 1 biomarker.

Brief Description: The 17-Hydroxyprogesterone (17-OHP) test is a laboratory test that measures the level of 17-OHP in the blood. 17-OHP is an intermediate product in the synthesis of cortisol, a hormone produced by the adrenal glands. This test is primarily used to evaluate the function of the adrenal glands and diagnose or monitor certain conditions related to cortisol production.

Also Known As: 17-OHP Test, 17-OH Progesterone Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a 17-Hydroxyprogesterone test ordered?

A 17-Hydroxyprogesterone test may be ordered in the following situations:

1. Congenital Adrenal Hyperplasia (CAH): This test is commonly ordered in newborns and children suspected of having CAH, a group of genetic disorders that affect the production of cortisol and other adrenal hormones. CAH can lead to abnormal development of sexual characteristics and potentially life-threatening adrenal crises.

2. Adrenal Tumors: In adults, a 17-Hydroxyprogesterone test may be ordered to evaluate adrenal tumors, such as adrenal adenomas or adrenal cancers. These tumors can cause excessive production of hormones, including 17-OHP.

3. Monitoring Treatment: For individuals with known adrenal disorders, including CAH, the 17-Hydroxyprogesterone test is used to monitor the effectiveness of treatment and adjust medication doses.

What does a 17-Hydroxyprogesterone blood test check for?

17-hydroxyprogesterone is a steroid hormone that is created during the cortisol production process. This test detects and/or evaluates congenital adrenal hyperplasia, a hereditary disorder characterized by decreased adrenal cortisol and aldosterone production and increased male sex hormone production.

Cholesterol is the source of 17-OHP. It is a precursor of active steroid hormones, rather than an active steroid hormone.

Cortisol is a hormone produced by the adrenal glands that aids in the breakdown of protein, carbohydrates, and fats, regulates the immune system, and maintains blood pressure. Other steroid hormones produced by the adrenal glands include aldosterone, which helps regulate salt levels and blood pressure, and androgens, which, like testosterone, cause male sexual characteristics and other consequences.

The processes in the synthesis of cortisol necessitate the use of several enzymes. Inadequate levels of cortisol are produced when one or more of these enzymes are insufficient or malfunctioning, as is the case with CAH. CAH is caused by a partial or total loss of the enzyme 21-hydroxylase, which accounts for around 90% of cases.

The adrenal gland grows in size because a low level of cortisol induces an increase in the level of a specific pituitary hormone that drives adrenal growth and hormone production. The increased size and activity, however, are insufficient to overcome the cortisol production bottleneck. Other chemicals that do not require the faulty enzyme, such as 17-hydroxyprogesterone and androgens, are created in excess. This is why 17-OHP testing can aid in the detection of CAH.

CAH is a set of hereditary illnesses characterized by cortisol-related enzyme deficits and caused by particular gene mutations. A mutation in the 21-hydroxylase gene causes around 90% of CAH cases, which can be diagnosed by an increase in 17-OHP in the blood. When both genes, one from each parent, contain mutations that reduce or cease the activity of the enzyme for which the gene codes, the disease is caused. Parents could be carriers, and carriers could not show any symptoms.

CAH with 21-hydroxylase deficiency can be inherited in two forms: severe and mild.

Severe forms can result in kids being born with severe aldosterone and cortisol deficits, necessitating medical treatment. This severe variant is most commonly found in infancy or early childhood through regular newborn screening. It may manifest in early childhood with signs and symptoms such as vomiting, listlessness, lack of energy, not eating properly, failure to thrive, dehydration, and low blood pressure if it is not found through screening, especially with severe sickness.

Excess male sex hormones can cause the development of male characteristics in females. Female babies' sex organs may not be obviously male or female, making it difficult to tell their gender at first. During childhood and adolescence, females may have excessive hair development on the face and body, as well as other male secondary sexual traits such as irregular menstruation. Men with this disorder may not appear different at birth, but they might develop sexual traits early in life, putting them at risk for fertility problems later in life.

Only partial lack of the enzyme may be present in the milder, though more prevalent type of CAH caused by 21-hydroxylase deficiency. This kind of CAH, also known as late-onset or non-classical CAH, can manifest symptoms at any age during childhood, adolescence, or adulthood. Symptoms might be nonspecific, develop slowly over time, and differ from one person to the next. Though this type of CAH is rarely life-threatening, it can cause growth, development, and puberty issues in children, as well as infertility in adults.

Lab tests often ordered with a 17-Hydroxyprogesterone test:

When a 17-Hydroxyprogesterone test is ordered, it's often part of a broader evaluation of adrenal function and hormonal balance. Here are some tests commonly ordered alongside it:

1. Cortisol Test:

   • Purpose: To measure the level of cortisol, the primary stress hormone.
   • Why Is It Ordered: To evaluate adrenal gland function and distinguish between CAH and other conditions affecting the adrenal glands.

2. ACTH Test:

   • Purpose: To assess the adrenal glands' response to ACTH, which stimulates cortisol production.
   • Why Is It Ordered: To confirm a diagnosis of CAH and to evaluate the severity of the disorder.

3. Electrolyte Panel:

   • Purpose: To measure key electrolytes in the blood.
   • Why Is It Ordered: Certain forms of CAH can lead to an imbalance of electrolytes, affecting blood pressure and overall health.

4. Androstenedione and Testosterone Levels:

   • Purpose: To measure levels of androgens (male sex hormones).
   • Why Is It Ordered: Elevated androgen levels can be a feature of CAH and can affect physical development and reproductive function.

5. Dehydroepiandrosterone Sulfate (DHEA-S) Test:

   • Purpose: To measure DHEA-S, an androgen produced by the adrenal glands.
   • Why Is It Ordered: To evaluate adrenal gland function and contribute to the assessment of androgen excess.

6. Renin Activity:

   • Purpose: To measure the activity of renin, an enzyme involved in blood pressure regulation.
   • Why Is It Ordered: Renin levels can be altered in CAH and can help guide treatment, particularly in salt-wasting forms of the disorder.

7. Complete Blood Count (CBC):

   • Purpose: Provides a broad picture of overall blood health.
   • Why Is It Ordered: To assess general health and rule out or identify other conditions that may mimic or accompany CAH.

These tests, when ordered alongside a 17-Hydroxyprogesterone test, provide a comprehensive view of adrenal function and hormonal balance. They are critical in diagnosing, managing, and monitoring CAH and related endocrine disorders. The specific combination of tests will depend on the individual’s symptoms, medical history, and the results of the initial tests.

Conditions where a 17-Hydroxyprogesterone test is recommended:

A 17-Hydroxyprogesterone test may be required for the following conditions or diseases:

1. Congenital Adrenal Hyperplasia: This group of genetic disorders affects cortisol synthesis, leading to abnormal development and potential complications.

2. Adrenal Tumors: Adrenal tumors, such as adrenal adenomas or adrenal cancers, can cause abnormal production of hormones, including 17-OHP.

How does my health care provider use a 17-Hydroxyprogesterone test?

The 17-hydroxyprogesterone test is used to detect congenital adrenal hyperplasia and can be used in the conjunction with other tests to diagnose and track CAH.

In the United States, the 17-OHP test is frequently ordered as part of newborn screening to detect CAH caused by a lack of 21-hydroxylase.

The 17-OHP test can be used to screen for CAH in older children and adults before symptoms develop, or to confirm a CAH diagnosis in persons who are already experiencing symptoms.

Diagnosis

The presence of 17-OHP in the blood can help doctors diagnose CAH in older children and people who have a milder, "late-onset" variant of the disease.

A 17-OHP test, along with plasma renin activity, androstenedione, and testosterone assays, may be used to evaluate the success of treatment if someone is diagnosed with 21-hydroxylase insufficiency.

In women with symptoms such as abundant face and body hair and irregular periods, a 17-OHP test, along with other hormone testing, may be done to help rule out CAH. Women with probable polycystic ovarian syndrome and infertility, as well as those with suspected adrenal or ovarian malignancies, fall under this category.

False-positive results have been reported with 17-OHP testing, particularly the newborn screening test. Other tests may be performed if the level is higher but not to the point where it is indicative of CAH.

As a follow-up test, an ACTH test may be ordered. ACTH stimulation causes a significant increase in 17-OHP levels in CAH.

CYP21A2 gene mutations that cause the disorder may be detected by genetic testing.

A karyotype test may be ordered as a follow-up test to discover chromosome problems and to assist in determining the gender of a newborn.

Electrolytes may be ordered to determine the sodium and potassium levels of a person.

What do my 17 Hydroxyprogesterone test results mean?

If a newborn or infant has highly elevated 17-OHP levels, he or she is most likely suffering from CAH. If a person's levels are somewhat elevated, he or she may have a milder case of CAH or an 11-beta-hydroxylase deficiency.

The absence of CAH due to a 21-hydroxylase deficit is most often shown by normal 17-OHP findings.

In a person with CAH, low or declining amounts suggest a positive response to treatment. High or rising levels may suggest that treatment has to be changed.

Most Common Questions About the 17-Hydroxyprogesterone test:

Understanding the 17-Hydroxyprogesterone Test

What is the 17-Hydroxyprogesterone test?

The 17-Hydroxyprogesterone test measures the level of 17-Hydroxyprogesterone, a steroid hormone produced by the adrenal glands and gonads, in the blood. This hormone is involved in the synthesis of cortisol, an important hormone for stress response, blood sugar regulation, immune response, and inflammation control.

Why would a 17-Hydroxyprogesterone test be ordered?

This test is most commonly ordered when there is a suspicion of congenital adrenal hyperplasia (CAH), a group of inherited disorders affecting the adrenal glands. CAH can lead to excess production of 17-Hydroxyprogesterone and a deficiency in cortisol and aldosterone.

Interpreting 17-Hydroxyprogesterone Test Results

What does a high 17-Hydroxyprogesterone test result mean?

A high level of 17-Hydroxyprogesterone in the blood may indicate CAH. However, high levels can also be found in individuals with non-classic CAH, polycystic ovary syndrome (PCOS), adrenal tumors, or in those under significant physiological stress.

What does a low 17-Hydroxyprogesterone test result mean?

Low levels of 17-Hydroxyprogesterone are generally not of concern and are typically seen in healthy individuals. However, in the context of steroid replacement therapy for CAH, low levels may suggest over-treatment.

Can the 17-Hydroxyprogesterone test be used to monitor treatment of CAH?

Yes, the 17-Hydroxyprogesterone test can be used to monitor the effectiveness of treatment for CAH, helping to ensure that hormone levels are adequately controlled.

17-Hydroxyprogesterone Test and Medical Conditions

How is the 17-Hydroxyprogesterone test used in diagnosing CAH?

The test is used to measure the level of 17-Hydroxyprogesterone in the blood. Elevated levels are indicative of CAH, especially when correlated with symptoms or following a positive newborn screening.

Can the 17-Hydroxyprogesterone test diagnose PCOS?

While not typically used alone to diagnose PCOS, elevated 17-Hydroxyprogesterone levels can be indicative of this condition, as women with PCOS may have elevated levels of various androgens, including 17-Hydroxyprogesterone.

How is the 17-Hydroxyprogesterone test used in relation to adrenal tumors?

While adrenal tumors are rare, they can sometimes lead to excess production of 17-Hydroxyprogesterone. If an adrenal tumor is suspected, this test can help in the diagnosis.

General Queries about the Test

Can I take medications before a 17-Hydroxyprogesterone test?

You should inform your healthcare provider about all medications you're taking, as some drugs can affect 17-Hydroxyprogesterone levels. Your doctor will advise if any changes are necessary.

How does the 17-Hydroxyprogesterone test differ from other hormone tests?

The 17-Hydroxyprogesterone test specifically measures the level of this hormone in the blood. Other hormone tests measure different hormones or metabolites, and are used for diagnosing and monitoring other conditions.

Why isn't the 17-Hydroxyprogesterone test used more frequently in diagnosing hormonal disorders?

While the 17-Hydroxyprogesterone test is useful in diagnosing certain conditions, other tests like the ACTH stimulation test, measurement of other androgens, or imaging studies may be required to get a complete picture of a patient's hormonal status.

Why might a 17-Hydroxyprogesterone test be repeated?

This test might be repeated to monitor the effectiveness of treatment for conditions like CAH, to ensure that hormone levels are adequately controlled.

Can the 17-Hydroxyprogesterone test help determine the cause of infertility?

Yes, in some cases, the 17-Hydroxyprogesterone test can help determine the cause of infertility, especially in the context of PCOS or CAH, conditions that can impact fertility.

Can the 17-Hydroxyprogesterone test be used to diagnose adrenal insufficiency?

Adrenal insufficiency generally results in low cortisol levels. While 17-Hydroxyprogesterone levels can be elevated in CAH, a condition that can cause adrenal insufficiency, the test is not typically used in isolation to diagnose adrenal insufficiency.

Can the 17-Hydroxyprogesterone test diagnose adrenal fatigue?

Adrenal fatigue is not a recognized medical diagnosis. While the 17-Hydroxyprogesterone test can help diagnose adrenal gland disorders like CAH, it cannot diagnose a condition like adrenal fatigue.

Can the 17-Hydroxyprogesterone test be used in neonatal screening?

Yes, many jurisdictions include a test for 17-Hydroxyprogesterone in neonatal screening programs to identify newborns with CAH, as early detection and treatment can prevent serious health issues.

Can the 17-Hydroxyprogesterone test help determine gender identity?

No, the 17-Hydroxyprogesterone test measures a hormone involved in adrenal and gonadal function, and does not have any relevance to a person's gender identity.

Can the 17-Hydroxyprogesterone test be used to assess ovarian function?

While not typically used to assess ovarian function, elevated levels of 17-Hydroxyprogesterone can be seen in conditions like PCOS that affect the ovaries.

Does the 17-Hydroxyprogesterone test help in understanding menopause?

The 17-Hydroxyprogesterone test is not typically used in the assessment of menopause, though changes in levels can occur due to alterations in adrenal and ovarian function.

Can the 17-Hydroxyprogesterone test predict ovarian hyperstimulation syndrome in IVF treatment?

While there is ongoing research, the role of 17-Hydroxyprogesterone in predicting ovarian hyperstimulation syndrome is not well established.

Is there a role for the 17-Hydroxyprogesterone test in pregnancy?

This test is generally not used during pregnancy, unless there's a specific reason like suspicion of CAH in the fetus.

Does the time of day affect the 17-Hydroxyprogesterone test?

Yes, 17-Hydroxyprogesterone levels follow a diurnal rhythm, with levels peaking in the morning. This is why testing is often done in the morning.

Can the 17-Hydroxyprogesterone test be used to monitor the progression of adrenal or ovarian tumors?

While this test could potentially be used to monitor these conditions, it's generally not the first choice. Other tests and imaging studies are often more informative.

Can the 17-Hydroxyprogesterone test diagnose Cushing's syndrome?

The 17-Hydroxyprogesterone test isn't typically used to diagnose Cushing's syndrome. Cushing's syndrome is usually diagnosed through a series of other tests, including urine cortisol tests, low-dose dexamethasone suppression test, and ACTH test.

Can a 17-Hydroxyprogesterone test diagnose Addison's disease?

While the 17-Hydroxyprogesterone test can help identify issues with the adrenal glands, it is not typically used to diagnose Addison's disease. Other tests, like the ACTH stimulation test, are more commonly used.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.