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26027 17-Hydroxypregnenolone, Serum (17OHP)

17-Hydroxypregnenolone, Serum (17OHP)
Test Code: 17OHPSO
Synonyms/Keywords
17-Hydroxypregnenolone
Useful For

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.

Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​No ​Serum ​Red Top Tube (RTT) ​Serum Separator Tube (SST) ​1 mL ​0.5 mL ​
Specimen Stability Information
Specimen Type Temperature Time
​Serum ​ ​Frozen (preferred) ​28 days
​Refrigerate ​28 days
Interference

​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.

Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday, Tuesday, Thursday ​2 to 6 days ​Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reference Lab
Mayo Clinic Laboratories
Reference Range Information
Performing Location Reference Range
​Mayo Clinic Laboratories ​

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 

Interpretation

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.

Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​84143 ​ ​1 ​ ​
Synonyms/Keywords
17-Hydroxypregnenolone
Ordering Applications
Ordering Application Description
​COM ​17-Hydroxypregnenolone (17OHP)
​Cerner ​17-Hydroxypregnenolone (17OHP)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​No ​Serum ​Red Top Tube (RTT) ​Serum Separator Tube (SST) ​1 mL ​0.5 mL ​
Specimen Stability Information
Specimen Type Temperature Time
​Serum ​ ​Frozen (preferred) ​28 days
​Refrigerate ​28 days
Interference

​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.

Useful For

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.

Reference Range Information
Performing Location Reference Range
​Mayo Clinic Laboratories ​

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 

Interpretation

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.

For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday, Tuesday, Thursday ​2 to 6 days ​Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reference Lab
Mayo Clinic Laboratories
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​84143 ​ ​1 ​ ​
For most current information refer to the Marshfield Laboratory online reference manual.