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Test Code 17OHP 17-Hydroxypregnenolone, Serum

Additional Codes

CNE Order Code: 17-OHpregnen

Reporting Name

17-Hydroxypregnenolone, S

Useful 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

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 (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

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.

Report Available

3 to 7 days

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Method Name

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