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HelpTest Code 17OHP 17-Hydroxypregnenolone, Serum
Reporting Name
17-Hydroxypregnenolone, SUseful For
As 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
As part of a battery of tests to evaluate women with hirsutism or infertility; both can result from adult-onset CAH
Testing Algorithm
For information see Steroid Pathways.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumSpecimen Required
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.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Frozen (preferred) | 28 days | |
| Refrigerated | 28 days |
Special Instructions
Reference Values
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
*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
ADULTS
Males
≥18 years: 55-455 ng/dL
Females
≥18 years: 31-455 ng/dL
To convert to nmol/L, multiply the value in ng/dL by 0.03159757.
Day(s) Performed
Monday, Wednesday, Friday
Test Classification
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
84143
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| 17OHP | 17-Hydroxypregnenolone, S | 6765-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 81151 | 17-Hydroxypregnenolone, S | 6765-2 |
Interpretation
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 dehydroepiandrosterone (DHEA) levels will be increased.
In the much less common CYP11A1 variant, androstenedione levels are elevated to a similar extent as in CYP21A2 variant, and cortisol is also low, but OHPG is only mildly, if at all, elevated.
In the 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 (particularly pregnenolone, 11-dexycorticosterone, corticosterone, and 18-hydroxycorticosterone) are increased.
For more information see Steroid Pathways.
Clinical Reference
1. Wudy SA, Hartmann M, Svoboda M. Determination of 17-hydroxyprogesterone in plasma by stable 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 PC, 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 (Phila). 2001:40(1):1-16
7. Chormanski D, Muzio MR. C 17 hydroxylase deficiency. In: StatPearls [Internet]. StatPearls Publishing; 2021. Updated January 3, 2023. Accessed May 29, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK546644/
Report Available
3 to 7 daysMethod Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)