Name of the Procedure:

ACTH Stimulation Panel for 3 Beta-Hydroxydehydrogenase Deficiency

Summary

An ACTH Stimulation Panel measures the adrenal gland's response to adrenocorticotropic hormone (ACTH). This test is used to diagnose 3 beta-hydroxydehydrogenase deficiency, a rare congenital adrenal hyperplasia. It involves administering ACTH and measuring hormone levels, specifically Cortisol and 17 Hydroxypregnenolone, to assess the adrenal function.

Purpose

The procedure aims to diagnose 3 beta-hydroxydehydrogenase deficiency, a condition that affects steroid hormone production. By analyzing hormone levels before and after ACTH administration, doctors can determine whether the adrenal glands are functioning properly. The expected outcome is the identification of any hormonal imbalances indicative of this deficiency.

Indications

• Symptoms such as ambiguous genitalia, early-onset puberty, or adrenal insufficiency.
• Unexplained electrolyte imbalances.
• A family history of congenital adrenal hyperplasia.

Preparation

• Patients may need to fast for 8-12 hours before the test.
• Some medications may need to be paused or adjusted as directed by a healthcare provider.
• Baseline hormone levels will be assessed before administering ACTH.

Procedure Description

1. Baseline Blood Draw: A blood sample is taken to measure initial levels of Cortisol and 17 Hydroxypregnenolone.
2. ACTH Administration: Synthetic ACTH is injected into the bloodstream.
3. Post-Administration Blood Draws: Blood samples are taken at specific intervals (typically 30 and 60 minutes) after ACTH injection to measure hormone levels again.

This procedure uses standard blood draw tools and synthetic ACTH. No anesthesia or sedation is typically required.

Duration

The entire process takes approximately 1-2 hours.

Setting

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

Personnel

• A nurse or phlebotomist will perform the blood draws.
• An endocrinologist will interpret the test results.

Risks and Complications

• Minor risk of infection or bruising at the injection site.
• Rare allergic reactions to synthetic ACTH.
• Possible discomfort or fainting related to blood draws.

Benefits

• Accurate diagnosis of 3 beta-hydroxydehydrogenase deficiency.
• Enables appropriate treatment planning.
• Hormonal imbalances identified and managed promptly.

Recovery

• Minimal recovery time, patients can resume normal activities immediately.
• Follow-up appointments may be scheduled to discuss results and treatment options.

Alternatives

• Genetic testing for congenital adrenal hyperplasia.
• Other types of adrenal function tests.
• Pros of the ACTH stimulation panel include specific diagnosis; cons may include multiple blood draws and time commitment.

Patient Experience

• Patients might feel a pinch during blood draws and slight discomfort from the injection.
• Most patients report minimal discomfort, with any pain managed by standard care and comfort measures.
• Results are typically discussed in a follow-up visit with the endocrinologist.