Name of the Procedure:

ACTH Stimulation Panel for 21 Hydroxylase Deficiency
Common Name(s): ACTH stimulation test, Cosyntropin stimulation test
Technical/M edical Term: Adrenocorticotropic hormone (ACTH) stimulation panel

Summary

The ACTH stimulation panel is a diagnostic test used to evaluate the functioning of the adrenal glands by measuring cortisol and 17-hydroxyprogesterone levels before and after administration of synthetic ACTH.

Purpose

Medical Condition: 21 Hydroxylase Deficiency
Goals: To assess adrenal gland function and diagnose conditions such as congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency.

Indications

• Symptoms of adrenal insufficiency like fatigue, muscle weakness, and salt craving.
• Ambiguous genitalia or other signs of CAH in newborns.
• Unexplained low blood pressure or dehydration.
• Screening in patients with a family history of 21 hydroxylase deficiency.

Preparation

• Patients may be instructed to fast for a certain period before the test.
• Medications affecting cortisol levels should be adjusted as directed by the healthcare provider.
• A preliminary blood draw may be required to establish baseline levels.

Procedure Description

1. Baseline Blood Draw: A blood sample is taken to measure initial cortisol (82533) and 17-hydroxyprogesterone (83498) levels.
2. Administration of ACTH: Synthetic ACTH (cosyntropin) is administered via injection.
3. Post-ACTH Blood Draws: Additional blood samples are taken at specified intervals (usually 30 and 60 minutes after administration) to measure the levels of cortisol and 17-hydroxyprogesterone again.

Tools and Equipment: Needles, syringes, synthetic ACTH (cosyntropin), blood collection tubes.
Anesthesia/Sedation: Not typically required.

Duration

The entire procedure typically takes about 1-2 hours.

Setting

The procedure is usually performed in an outpatient clinic or hospital laboratory.

Personnel

• Trained nurses or phlebotomists for blood draws.
• A healthcare provider such as an endocrinologist or pediatrician to supervise the test.

Risks and Complications

• Minor risks include pain or bruising at the injection site.
• Rarely, allergic reactions to synthetic ACTH.

Benefits

• Accurate diagnosis of 21 hydroxylase deficiency or other adrenal disorders.
• Guidance for appropriate treatment and management of diagnosed conditions.

Recovery

• Post-procedure care is minimal and typically involves monitoring for any immediate reactions to the injection.
• Patients can typically resume normal activities shortly after the procedure.
• Follow-up appointments may be scheduled to discuss test results and further treatment plans.

Alternatives

• Other diagnostic tests, such as genetic testing or different hormonal assays.
• Pros: Genetic testing is non-invasive and can directly indicate CAH.
• Cons: ACTH stimulation test provides functional information about adrenal performance not available from genetic tests.

Patient Experience

• Patients may feel a slight discomfort from needle sticks for blood draws and the injection.
• Pain management measures include local anesthetics or cold sprays to numb the area.
• Overall, the procedure is well-tolerated and low-risk.