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 both 21- and 11-hydroxylase deficiency have been ruled out
Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency and 17-alpha-hydroxylase deficiency
As part of a battery of tests to evaluate women 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.
For information see Steroid Pathways.
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.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
3-Beta-hydroxysteroid dehydrogenase deficiency
Adult-onset congenital adrenal hyperplasia
Congenital adrenal hyperplasia
Hirsutism
Infertility
Pregnenolone
17-Hydroxypregnenolone
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For information see Steroid Pathways.
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
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 1 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
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. The minimum volume is sufficient for one attempt at testing.
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 | 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 both 21- and 11-hydroxylase deficiency have been ruled out
Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency and 17-alpha-hydroxylase deficiency
As part of a battery of tests to evaluate women 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.
For information see Steroid Pathways.
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 can cause CAH, including 21-hydroxylase (CYP21A2 variants; 90% of cases), 11-hydroxylase (CYP11A1 variants; 5%-8%), 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) (HSD3B2 variants; <5%), and 17-alpha-hydroxylase (CYP17A1 variants; <1%). 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-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-OHPG (along with cortisol and androstenedione). CAH21 / Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydoxylase Deficiency, Serum allows the simultaneous determination of these 3 analytes. Alternately, these tests may be ordered individually: OHPG / 17-Hydroxyprogesterone, Serum; CINP / Cortisol, Mass Spectrometry, Serum; 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.
For more information see Steroid Pathways.
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/ADOLESCENTS*
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
17-HYDROXYPREGNENOLONE
CHILDREN/ADOLESCENTS*
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
To convert to nmol/L, multiply the value in ng/dL by 0.03159757.
Interpretation
Provides information to assist in interpretation of the test results
The 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) variants usually have very high levels of androstenedione, often 5-fold to 10-fold elevations. 17-Hydroxyprogesterone (17-OHPG) levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested.
For the HSD3B2 variant, cortisol, 17-OHPG, and progesterone levels will be decreased; 17-hydroxypregnenolone, pregnenolone, and DHEA levels will be increased.
In the much less common CYP11A1 variant, androstenedione levels are elevated to a similar extent as seen in CYP21A2 variant, and cortisol also is low, but 17-OHPG is only mildly, if at all, elevated.
In the 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 (particularly pregnenolone, 11-dexycorticosterone, corticosterone, and 18-hydroxycorticosterone) are increased.
For more information see Steroid Pathways.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
At birth, the hypothalamic-pituitary-adrenal axis and the hypothalamic-pituitary gonadal axis are activated, and adrenal and sex steroid levels are high. In preterm infants, the elevations can be even more pronounced due to illness and stress. As a result, preterm infants may occasionally have 17-hydroxypregnenolone levels up to 9799 ng/dL. Term infants (0-28 days) will have levels below 3104 ng/dL. These then decrease over the following 2 years to prepubertal levels (<277 ng/dL).
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Wudy SA, Harmann M, Swoboda M. Determination of 17- hydroxypregnenolone in plasma by stabile isotope dilution/bechtop 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, Lacey JM, Rinaldo P. Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Ann Clin. Lab. Sci. 2001;31:199-204
5.. Collett-Solberg PF. Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, part I. Clin Pediatr (Phila). 2001:40(1):1-16
6. Kushnir MA, Rockwood AL, Roberts WL, Pattison EG, et al. Development and performance evaluation of a tandem mass spectrometry assay for 4 adrenal steroids. Clinical Chemistry 2006;52(8):1559-1567
7. Siklar Z, Camtosun E, Bolu S, et al. 17 alpha hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort. Endocrine. 2024;85(3):1407-1416. doi:10.1007/s12020-024-03962-6
8. Duskova M, Kolatorova L, Simkova M, et al. Steroid diagnostics of 21st century in the light of their new roles and analytical tools. Physiol Res. 2020;69(Suppl 2):S193-S203. doi:10.33549/physiolres.934517
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 each sample. Pregnenolone, 17-hydroxypregnenolone, and the internal standards are extracted from the sample using solid-phase extraction. The extracts are washed, dried under nitrogen, then derivatized using hydroxylamine, and analyzed by liquid chromatography tandem mass spectrometry.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
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, Wednesday, Friday
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.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
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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. It 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.
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 |