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Test Code 17PRN Pregnenolone and 17-Hydroxypregnenolone, Serum

Reporting Name

Pregnenolone and 17-OH Pregnenolone

Useful For

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

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

Testing Algorithm

For more information see Steroid Pathways.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Specimen 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 28 days

Special Instructions

Reference Values

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

≥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

≥18 years: 55-455 ng/dL

Females

≥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.

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

84140-Pregnenolone

84143-17-Hydroxypregnenolone

LOINC Code Information

Test ID Test Order Name Order LOINC Value
17PRN Pregnenolone and 17-OH Pregnenolone In Process

 

Result ID Test Result Name Result LOINC Value
81151 17-Hydroxypregnenolone, S 6765-2
88645 Pregnenolone, S 2837-3

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 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.

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]. Treasure Island (FL): StatPearls Publishing LLC; 2021. Updated January 3, 2023. Accessed May 29, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK546644/

Report Available

3 to 7 days

Method Name

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

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