17-Hydroxyprogesterone (17-OHP)

When is 17-OHP ordered?

The 17-OHP test is typically included in routine newborn screenings and may be repeated if initial results are elevated to confirm accuracy.

A 17-OHP test may be requested when an infant or young child displays symptoms of adrenal insufficiency or congenital adrenal hyperplasia (CAH). These symptoms can encompass:

1. Lethargy and lack of energy.
2. Poor feeding habits.
3. Skin appearing unusually tan.
4. Dehydration.
5. Low blood pressure.
6. Ambiguous genitalia (unclear male or female characteristics).
7. Development of male secondary sexual characteristics (virilization).
8. Acne.

In some cases, the 17-OHP test may also be ordered for older children or adults suspected of having the milder form of CAH (late-onset). Additionally, it may be used when a girl or woman presents with symptoms that could be attributed to CAH or another condition, such as polycystic ovary syndrome (PCOS). These symptoms may encompass:

1. Excessive facial and body hair growth (hirsutism).
2. Absent or irregular menstrual periods.
3. Development of male secondary sexual characteristics.
4. Infertility.

Testing may be conducted in boys or men who experience:

1. Early (precocious) puberty.
2. Infertility.

For individuals diagnosed with 21-hydroxylase deficiency, periodic 17-OHP tests may be ordered to monitor the effectiveness of treatment.

What does the test result show?

In the case of a newborn or infant with significantly elevated levels of 17-OHP, they probably have congenital adrenal hyperplasia (CAH). When 17-OHP levels are moderately increased, it could suggest a milder form of CAH or potentially an 11-beta-hydroxylase deficiency, another enzyme defect associated with CAH.

When 17-OHP results fall within the normal range, it is likely, the tested individual does not have CAH due to a 21-hydroxylase deficiency.

For individuals with CAH, declining concentrations of 17-OHP indicate a positive response to treatment. Conversely, persistently high or increasing levels may suggest the need for adjustments in their treatment regimen.

Is it advisable to inform all my healthcare providers about my CAH condition?

Indeed, all your healthcare providers must be aware of your CAH diagnosis. Most individuals with CAH require ongoing hormone replacement therapy and regular condition monitoring.

Is it advisable for my family members to undergo testing if I or my child has CAH?

Discuss this matter with your healthcare provider or a genetic counsellor. CAH results from an autosomal recessive genetic mutation, meaning both parents must carry an altered gene for their child to develop the condition. If both parents are carriers, each child has a 25% risk of inheriting the condition.

Is there any test Preparation Needed?

There is no specific fasting requirement, but early morning collection may be preferred; alternatively, a specific time during a woman's menstrual cycle may be requested. Notably, the test should not be ordered if the patient uses steroids.