Useful For
Suggests clinical disorders or settings where the test may be helpful
As 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
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.
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)
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
17-Hydroxypregnenolone, S
Aliases
Lists additional common names for a test, as an aid in searching
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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
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 Type |
Temperature |
Time |
Special Container |
Serum |
Frozen (preferred) |
28 days |
|
|
Refrigerated |
28 days |
|
Useful For
Suggests clinical disorders or settings where the test may be helpful
As 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
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.
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 the 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 (DHEA) 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-Hydroxylase Deficiency allows the simultaneous determination of these 3 analytes. Alternatively, 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.
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 requires 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-hydroxyprogesterone (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 dehydroepiandrosterone (DHEA) levels will be increased.
In the much less common CYP11A1 mutation, androstenedione levels are elevated to a similar extent as in CYP21A2 mutation, and cortisol is also low, but OHPG is only mildly, if at all, elevated.
In the also very rare 17-alpha-hydroxylase deficiency, androstenedione, all other androgen-precursors (17-alpha-hydroxypregnenolone, 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
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 of up to 9,799 ng/dL. Term infants (0-28 days) will have levels <3,104 ng/dL. These then fall over the following 2 years to prepubertal levels of <277 ng/dL.
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 SA, 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 (LC-MS/MS). 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
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
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.
Test Id |
Test Order Name |
Order LOINC Value
|
17OHP |
17-Hydroxypregnenolone, S |
6765-2 |
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 |
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
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