Home
HelpMayo Test ID OHPG 17-Hydroxyprogesterone, Serum
Ordering Guidance
The preferred screening test for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is CAH21 / Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum, which allows the simultaneous determination of 17-hydroxyprogesterone, androstenedione, and cortisol.
Necessary Information
Patient's age and sex are required.
Specimen Required
Collection Container/Tube: Red top (serum gel/SST are not acceptable)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.6 mL
Collection Instructions: Centrifuge and aliquot serum into plastic vial.
Useful For
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione
As part of a battery of tests to evaluate women with hirsutism or infertility
Testing Algorithm
For more information see Steroid Pathways
Special Instructions
Method Name
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
17-Hydroxyprogesterone, SSpecimen Type
Serum RedSpecimen Minimum Volume
0.25 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum Red | Refrigerated (preferred) | 28 days | |
| Frozen | 28 days | ||
| Ambient | 7 days |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Clinical Information
Congenital adrenal hyperplasia (CAH) is caused by inherited defects in steroid biosynthesis. The resulting hormone imbalances with reduced glucocorticoids and mineralocorticoids and elevated 17-hydroxyprogesterone (OHPG) and androgens can lead to life-threatening, salt-wasting crisis in the newborn period and incorrect gender assignment of virtualized female patients. Adult-onset CAH may result in hirsutism or infertility in women.
The adrenal glands, ovaries, testes, and placenta produce OHPG. It is hydroxylated at the 11 and 21 position to produce cortisol. Deficiency of either 11- or 21-hydroxylase results in decreased cortisol synthesis, and feedback inhibition of adrenocorticotropic hormone (ACTH) secretion is lost. Consequent increased pituitary release of ACTH increases production of OHPG. But, if 17-alpha-hydroxylase (which allows formation of OHPG from progesterone) or 3-beta-hydroxysteroid dehydrogenase type 2 (which allows formation of 17-hydroxyprogesterone formation from 17-hydroxypregnenolone) are deficient, OHPG levels are low with possible increase in progesterone or pregnenolone respectively.
OHPG is bound to both corticosteroid binding globulin and albumin, and total OHPG is measured in this assay.
OHPG is converted to pregnanetriol, which is conjugated and excreted in the urine. In all instances, more specific tests are available to diagnose disorders or steroid metabolism than pregnanetriol measurement.
Most (90%) cases of CAH are due to variants in the steroid 21-hydroxylase gene (CYP21A2). CAH due to 21-hydroxylase deficiency is diagnosed by confirming elevations of OHPG and androstenedione (ANST / Androstenedione, Serum) with decreased cortisol (CINP / Cortisol, Mass Spectrometry, Serum). By contrast, in 2 less common forms of CAH, due to 17-hydroxylase or 11-hydroxylase deficiency, OHPG and androstenedione levels are not significantly elevated and measurement of progesterone (PGSN / Progesterone, Serum) and deoxycorticosterone (DOCS / 11-Deoxycorticosterone, Serum), respectively, are necessary for diagnosis.
For more information see Steroid Pathways
Reference Values
Children:
Preterm infants
Preterm infants may exceed 630 ng/dL, however, it is uncommon to see levels reach 1,000 ng/dL.
Term infants
0-28 days: <630 ng/dL
Levels fall from newborn (<630 ng/dL) to prepubertal gradually within 6 months.
Prepubertal males: <110 ng/dL
Prepubertal females: <100 ng/dL
Adults:
Males: <220 ng/dL
Females
Follicular: <80 ng/dL
Luteal: <285 ng/dL
Postmenopausal: <51 ng/dL
Note: For pregnancy reference ranges, see: Soldin OP, Guo T, Weiderpass E, et al. Steroid hormone levels in pregnancy and 1 year postpartum using isotope dilution tandem mass spectrometry. Fertil Steril. 2005;84(3):701-710
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) variants usually have very high levels of androstenedione, often 5- to 10-fold elevations. 17-hydroxyprogesterone (OHPG) levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested.
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 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 progesterone, 11-deoxycorticosterone, and 18-hydroxycorticosterone, are increased.
The goal of CAH treatment is normalization of cortisol levels and, ideally, also of sex-steroid levels. Traditionally, OHPG and urinary pregnanetriol or total ketosteroid excretion are measured to guide treatment, but these tests correlate only modestly with androgen levels. Therefore, androstenedione and testosterone should also be measured and used to guide treatment modifications. Normal prepubertal levels may be difficult to achieve, but if testosterone levels are within the reference range, androstenedione levels of up to 100 ng/dL are usually regarded as acceptable.
For more information see Steroid Pathways .
Cautions
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-hydroxyprogesterone levels of up to 1000 ng/dL. Term infants (0-28 days) will have levels less than 630 ng/dL. These then fall over the following 1 to 6 months to prepubertal levels of less than 110 ng/dL (males) and less than 100 ng/dL (female patients).
Clinical Reference
1. Von Schnakenburg K, Bidlingmaier F, Knorr D. 17-hydroxyprogesterone, androstenedione, and testosterone in normal children and in prepubertal patients with congenital adrenal hyperplasia. Eur J Pediatr. 1980;133(3):259-267
2. Sciarra F, Tosti-Croce C, Toscano V. Androgen-secreting adrenal tumors. Minerva Endocrinol. 1995;20(1):63-68
3. Collett-Solberg P. Congenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, part I. Clin Pediatr. 2001;40(1):1-16
4. Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2010;95(9):4133-4160
5. Nordenstrom A, Falhammar H. Management of Endocrine Disease: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency. Eur J Endocrinol. 2019;180(3):R127-R14
6. Young WF Jr. Primary aldosteronism: A common and curable form of hypertension. Cardiol Rev. 1999;7(4):207-214
7. Young WF Jr. Pheochromocytoma and primary aldosteronism: diagnostic approaches. Endocrinol Metab Clin North Am. 1997;26(4):801-827
8. 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
9. Therrell BL. Newborn screening for congenital adrenal hyperplasia Endocrinol Metab Clin North Am. 2001;30(1):15-30
10. Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. 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
11. Kao P, Machacek DA, Magera MJ, Lacey JM, Rinaldo P. Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Ann Clin Lab Sci. 2001;31(2):199-204
12. Young WF Jr. Management approaches to adrenal incidentalomas-a view from Rochester, Minnesota. Endocrinol Metab Clin North Am. 2000;29(1):159-185
13. Ibanez L, DiMartino-Nardi J, Potau N, Saenger P. Premature adrenarche-normal variant or forerunner of adult disease? Endocr Rev. 2000;21(6):671-696
14. Allolio B, Arlt W. DHEA treatment: myth or reality? Trends Endocrinol Metab 2002;13(7):288-294
15. Lin CL, Wu TJ, Machacek DA, Jiang NS, Kao PC. Urinary free cortisol and cortisone determined by high-performance liquid chromatography in the diagnosis of Cushing's syndrome. J Clin Endocrinol Metab. 1997;82(1):151-155
16. Findling JW, Raff H. Diagnosis and differential diagnosis of Cushing's syndrome. Endocrinol Metab Clin North Am 2001;30(3):729-747
17. Buchman Al. Side effects of corticosteroid therapy. J Clin Gastroenterol. 2001;33(4):289-297
18. Dodds HM, Taylor PJ, Cannell GR, Pond SM. A high-performance liquid chromatography-electrospray-tandem mass spectrometry analysis of cortisol and metabolites in placental perfusate. Anal Biochem. 1997;247(2):342-347
19. Cengiz H, Demirci T, Varim C, Cetin S. Establishing a new screening 17 hydroxyprogesterone cut-off value and evaluation of the reliability of the long intramuscular ACTH stimulation test in the diagnosis of nonclassical congenital adrenal hyperplasia. Eur Rev Med Pharmacol Sci. 2021;25(16):5235-5240. doi:10.26355/eurrev_202108_26537
Method Description
Deuterated stable isotopes (d4-cortisol, d7-androstenedione, d8 17-hydroxyprogesterone) are added to the serum sample as internal standards. Cortisol, androstenedione, 17-hydroxyprogesterone, and the internal standards are extracted from specimens online using a guard cartridge. The analytes are transferred online to an analytical column and are analyzed by liquid chromatography tandem mass spectrometry.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Report Available
2 to 5 daysSpecimen Retention Time
14 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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
83498
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| OHPG | 17-Hydroxyprogesterone, S | 1668-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 9231 | 17-Hydroxyprogesterone, S | 1668-3 |