Test Catalog

Test Id : 17PRN

Pregnenolone and 17-Hydroxypregnenolone, Serum

Useful For
Suggests clinical disorders or settings where the test may be helpful

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of 21-hydroxylase and 11-hydroxylase deficiency have been ruled out.

 

Confirming a diagnosis of 3-beta-hydroxy dehydrogenase (3-beta-HSD) deficiency and 17-alpha-hydroxylase deficiency.

 

Analysis for 17-hydroxypregnenolone is also useful as part of a battery of tests to evaluate females with hirsutism or infertility. Both can result from adult-onset CAH.

Profile Information
A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test Id Reporting Name Available Separately Always Performed
PREGN Pregnenolone, S Yes Yes
17OHP 17-Hydroxypregnenolone, S Yes Yes

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Steroid Pathways in Special Instructions.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Portions of this test are covered by patents held by Quest Diagnostics

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Pregnenolone and 17-OH Pregnenolone

Aliases
Lists additional common names for a test, as an aid in searching

17-Hydroxypregnenolone

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Steroid Pathways in Special Instructions.

Specimen Type
Describes the specimen type validated for testing

Serum

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 1 mL

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Serum Frozen (preferred) 28 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of 21-hydroxylase and 11-hydroxylase deficiency have been ruled out.

 

Confirming a diagnosis of 3-beta-hydroxy dehydrogenase (3-beta-HSD) deficiency and 17-alpha-hydroxylase deficiency.

 

Analysis for 17-hydroxypregnenolone is also useful as part of a battery of tests to evaluate females with hirsutism or infertility. Both can result from adult-onset CAH.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Steroid Pathways in Special Instructions.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Congenital adrenal hyperplasia (CAH) is caused by inherited defects in steroid biosynthesis. Deficiencies in several enzymes cause CAH including 21-hydroxylase (CYP21A2 mutations; 90% of cases), 11-hydroxylase (CYP11A1 mutations; 5%-8%), 3-beta-hydroxy dehydrogenase (HSD3B2 mutations; <5%), and 17-alpha-hydroxylase (CYP17A1 mutations; 125 cases reported to date). The resulting hormone imbalances (reduced glucocorticoids and mineralocorticoids, and elevated steroid intermediates and androgens) can lead to life-threatening, salt-wasting crises in the newborn period and incorrect gender assignment of virilized females.

 

The adrenal glands, ovaries, testes, and placenta produce steroid intermediates, which are hydroxylated at position 21 (by 21-hydroxylase) and position 11 (by 11-hydroxylase) to produce cortisol. Deficiency of either 21-hydroxylase or 11-hydroxylase results in decreased cortisol synthesis and loss of feedback inhibition of adrenocorticotropic hormone (ACTH) secretion. The consequent increased pituitary release of ACTH drives increased production of steroid intermediates.

 

The steroid intermediates are oxidized at position 3 (by 3-beta-hydroxy dehydrogenase [3-beta-HSD]). The 3-beta-HSD enzyme allows formation of 17-hydroxyprogesterone (17-OHPG) from 17-hydroxypregnenolone and progesterone from pregnenolone. When 3-beta-HSD is deficient, cortisol is decreased, 17-hydroxypregnenolone and pregnenolone levels may increase, and 17-OHPG and progesterone levels, respectively, are low. Dehydroepiandrosterone is also converted to androstenedione by 3-beta-HSD, and may be elevated in patients affected with 3-beta-HSD deficiency.

 

The best screening test for CAH, most often caused by either 21- or 11-hydroxylase deficiency, is the analysis of 17-hydroxyprogesterone (along with cortisol and androstenedione). CAH21 / Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydoxylase Deficiency allows the simultaneous determination of these 3 analytes. Alternately, these tests may be ordered individually: OHPG / 17-Hydroxyprogesterone, Serum; CINP / Cortisol, Serum, LC-MS/MS; and ANST / Androstenedione, Serum.

 

If both 21- and 11-hydroxylase deficiency have been ruled out, analysis of 17-hydroxypregnenolone and pregnenolone may be used to confirm the diagnosis of 3-beta-HSD or 17-alpha-hydroxylase deficiency.

 

See Steroid Pathways in Special Instructions.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

PREGNENOLONE

CHILDREN*

Males

0-6 years: not established

7-9 years: <206 ng/dL

10-12 years: <152 ng/dL

13-15 years: 18-197 ng/dL

16-17 years: 17-228 ng/dL

Tanner Stages

Stage I: <157 ng/dL

Stage II: <144 ng/dL

Stage III: <215 ng/dL

Stage IV-V: 19-201 ng/dL

 

Females

0-6 years: not established

7-9 years: <151 ng/dL

10-12 years: 19-220 ng/dL

13-15 years: 22-210 ng/dL

16-17 years: 22-229 ng/dL

Tanner Stages

Stage I: <172 ng/dL

Stage II: 22-229 ng/dL

Stage III: 34-215 ng/dL

Stage IV-V: 26-235 ng/dL

 

ADULTS

> or =18 years: 33-248 ng/dL

*Kushnir MM, Rockwood AL, Roberts WL, et al: Development and performance evaluation of a tandem mass spectrometry assay for 4 adrenal steroids. Clin Chem 2006;52(8):1559-1567

 

17-HYDROXYPREGNENOLONE

CHILDREN*

Males

Premature (26-28 weeks): 1,219-9,799 ng/dL

Premature (29-36 weeks): 346-8,911 ng/dL

Full term (1-5 months): 229-3,104 ng/dL

6 months-364 days: 221-1,981 ng/dL

1-2 years: 35-712 ng/dL

3-6 years: <277 ng/dL

7-9 years: <188 ng/dL

10-12 years: <393 ng/dL

13-15 years: 35-465 ng/dL

16-17 years: 32-478 ng/dL

Tanner Stages

Stage I: <209 ng/dL

Stage II: <356 ng/dL

Stage III: <451 ng/dL

Stage IV-V: 35-478 ng/dL

 

Females

Premature (26-28 weeks): 1,219-9,799 ng/dL

Premature (29-36 weeks): 346-8,911 ng/dL

Full term (1-5 months): 229-3,104 ng/dL

6 months-364 days: 221-1,981 ng/dL

1-2 years: 35-712 ng/dL

3-6 years: <277 ng/dL

7-9 years: <213 ng/dL

10-12 years: <399 ng/dL

13-15 years: <408 ng/dL

16-17 years: <424 ng/dL

Tanner Stages

Stage I: <236 ng/dL

Stage II: <368 ng/dL

Stage III: <431 ng/dL

Stage IV-V: <413 ng/dL

 

ADULTS

Males

> or =18 years: 55-455 ng/dL

Females

> or =18 years: 31-455 ng/dL

*Kushnir MM, Rockwood AL, Roberts WL, et al: Development and performance evaluation of a tandem mass spectrometry assay for 4 adrenal steroids. Clin Chem 2006;52(8):1559-1567

Interpretation
Provides information to assist in interpretation of the test results

Diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH) always require the measurement of several steroids. Patients with CAH due to steroid 21-hydroxylase gene (CYP21A2) mutations usually have very high levels of androstenedione, often 5-fold to 10-fold elevations. 17-OHPG levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested.

 

For the HSD3B2 mutation, cortisol, 17-OHPG and progesterone levels will be will be decreased; 17-hydroxypregnenolone and pregnenolone and DHEA levels will be increased.

 

In the much less common CYP11A1 mutation, androstenedione levels are elevated to a similar extent as seen in CYP21A2 mutation, and cortisol also is low, but 17-OHPG is only mildly, if at all, elevated.

 

In the also very rare 17-hydroxylase deficiency, androstenedione, all other androgen-precursors (17-alpha-hydroxypregnenolone, 17-OHPG, dehydroepiandrosterone sulfate), androgens (testosterone, estrone, estradiol), and cortisol are low, while production of mineral corticoid and its precursors (in particular pregnenolone, 11-dexycorticosterone, corticosterone, and 18-hydroxycorticosterone) are increased.

 

See Steroid Pathways in Special Instructions.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

No significant cautionary statements

Supportive Data

To convert to nmol/L, multiply the value in ng/dL by 0.03159757.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Wudy S A, Hartmann M, Svoboda M: Determination of 17-hydroxypregnenolone in plasma by stabile isotope dilution/benchtop liquid chromatography-tandem mass spectrometry. Horm Res 2000;53(2):68-71

2. Therrell BL: Newborn screening for congenital adrenal hyperplasia Endocrinol Metab Clin North Am 2001;30(1):15-30

3. Bachega TA, Billerbeck AE, Marcondes JA, et al: Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 2000;52(5):601-607

4. Kao P, Machacek DA, Magera MJ, at al: Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Ann Clin Lab Sci. 2001;31(2):199-204

5. Sciarra F, Tosti-Croce C, Toscano V: Androgen-secreting adrenal tumors. Minerva Endocrinol 1995;20(1):63-68

6. Collett-Solberg PF: Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, part I. Clin Pediatr 2001:40(1):1-16

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Deuterium-labeled internal standards (pregnenolone-d4 and 17-hydroxypregnenolone-d3) are added to 0.2 mL of sample. Pregnenolone, 17-hydroxypregnenolone, and the internal standards are extracted from the sample using solid-phase extraction. The extracts are then washed and dried under nitrogen. Extracts are then derivatized using hydroxylamine and analyzed by liquid chromatography-tandem mass spectrometry. The mass spectrometer has an electrospray interface and is operated in the multiple-reaction monitoring positive mode. A 7-point standard curve is extracted and derivatized with each batch of samples.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday, Tuesday, Thursday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 6 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

14 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

84140-Pregnenolone

84143-17-Hydroxypregnenolone

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
17PRN Pregnenolone and 17-OH Pregnenolone In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
81151 17-Hydroxypregnenolone, S 6765-2
88645 Pregnenolone, S 2837-3

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports