Definition

The 17-hydroxyprogesterone (17-OH progesterone) hormone is produced in the adrenal glands, which are two small glands located above each kidney. Along with other specific enzymes and proteins, 17-OH progesterone is converted into cortisol, a hormone that is released in varying amounts depending on the body’s physical or emotional stress levels.

Cortisol plays a crucial role in metabolism regulation and immune system function. Deficiencies in cortisol may result from a lack of specific enzymes, causing an accumulation of 17-OH progesterone in the blood. Elevated levels of this hormone may indicate congenital adrenal hyperplasia (CAH), a condition that can lead to dehydration or shock in newborns, making early detection critical.

Indications

Neonatal 17-OH progesterone test is a significant screening tool for newborns. It helps identify, diagnose, and monitor treatment effectiveness for congenital adrenal hyperplasia (CAH). Doctors recommend this test if a newborn displays symptoms of CAH, including:

• Ambiguous genitalia, making it difficult to determine male or female sex
• Presence of pubic hair
• Acne
• Low energy levels
• Poor appetite
• Dehydration
• Low blood pressure

Contraindications

The neonatal 17-OH progesterone test is generally safe, with moderate risks associated with standard blood sampling procedures. There are no specific contraindications for this test.

Preparation Prior to Test

Doctors may recommend fasting for at least eight hours before the test to ensure accurate results, though this is not required for infants.

Discuss any medications your baby is taking with the doctor to determine if any should be paused before the test. Additionally, dress your baby in loose, comfortable clothing to facilitate easy access for blood sample collection.

Test Procedure

The neonatal 17-OH progesterone test requires a small blood sample. For infants, a simple heel prick is sufficient. Laboratory staff use a lancet, a sharp instrument, to puncture the skin, and the blood is collected in a small glass tube or on a test strip. After blood collection, the puncture site is covered with a bandage to stop any bleeding.

The test is minimally invasive. Any discomfort, such as slight bruising or pain around the area, typically resolves within a few days. There are small risks associated with blood collection, including:

• Excessive bleeding
• Dizziness
• Fainting
• Hematoma (bruising)
• Infection at the puncture site

Normal and Abnormal Values

Normal values for 17-OH progesterone levels vary depending on factors like age, gender, and testing methods. Typical reference ranges are:

• Newborns: 1,000–3,000 nanograms per deciliter (ng/dL)
• Infants older than 24 hours: Less than 100 ng/dL

High 17-OH progesterone levels may indicate congenital adrenal hyperplasia (CAH), with affected infants often showing levels between 2,000 and 4,000 ng/dL. Elevated levels can also suggest the presence of an adrenal tumor, requiring further testing to identify the underlying cause.

Results and Recommendations (Follow-up Tests)

Elevated 17-OH progesterone levels may point to CAH or, in rare cases, an adrenal tumor. Additional tests will be required to confirm the diagnosis and determine the cause.

Decreased hormone levels after treatment indicate successful management of high 17-OH progesterone levels. Treatment may involve addressing cortisol deficiency or surgical procedures to correct genital abnormalities and improve function.

Consult the Right Doctor

For abnormal test results, consult a general practitioner to obtain an appropriate diagnosis and discuss therapy options. Your doctor may recommend additional tests to determine the precise treatment required.

If necessary, consult a pediatrician for specialized care. The doctor may perform further assessments to confirm the diagnosis and develop an effective treatment plan.

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