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Test Code OHPG 17-Hydroxyprogesterone, Serum

Reporting Name

17-Hydroxyprogesterone, S

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum Red


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.


Specimen 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

Special Instructions

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

Day(s) Performed

Monday through 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

83498

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

Report Available

2 to 5 days

Reject Due To

Gross hemolysis OK
Gross lipemia Reject
Gross icterus OK

Method Name

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

Forms

If not ordering electronically, complete, print, and send General Test Request (T239) with the specimen.