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Test Code LAB1916 17-Hydroxyprogesterone, Serum

Additional Codes

 

Test Name in EPIC EPIC Test Code Mnemonic Mayo Test ID
17-HYDROXYPROGESTERONE, S LAB1916 17HYP OHPG

 

Reporting Name

17-Hydroxyprogesterone, S

Useful For

The analysis of 17-hydroxyprogesterone (17-OHPG) is 1 of the 3 analytes along with cortisol and androstenedione, that constitutes the best screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency.

 

Analysis for 17-OHPG is also useful as part of a battery of tests to evaluate females with hirsutism or infertility; both can result from adult-onset CAH

Testing Algorithm

See Steroid Pathways in Special Instructions.

Method Name

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

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Serum Red


Specimen Required


Container/Tube: Red top

Specimen Volume: 0.6 mL

Additional Information: Indicate patient's age and sex.


Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Serum Red Refrigerated (preferred) 14 days
  Frozen  28 days
  Ambient  7 days

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

Mild OK; Gross reject

Icterus

Mild OK; Gross OK

Other

Serum gel tube

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 Sept;84(3):701-710

Day(s) and Time(s) Performed

Monday through Friday; 4 p.m.

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

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

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 1,000 ng/dL. Term infants (0-28 days) will have levels <630 ng/dL. These then fall over the following 1 to 6 months to prepubertal levels of <110 ng/dL (males) and <100 ng/dL (females).

Method Description

17-Hydroxyprogesterone and internal standard are extracted from serum. The extract is quantified using high-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS).(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)

Analytic Time

2 days

Specimen Retention Time

14 days

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 females. Adult-onset CAH may result in hirsutism or infertility in females.

 

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 mutations 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, Serum, LC-MS/MS). 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 (FDOC / Deoxycorticosterone [DOC], Serum), respectively, are necessary for diagnosis.

 

CAH21 / Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency allows the simultaneous determination of OHPG, androstenedione, and cortisol.

 

See Steroid Pathways in Special Instructions.

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- 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 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 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.

 

See Steroid Pathways in Special Instructions.

Forms

If not ordering electronically, complete, print, and send a General Request Form (T239) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/general-request-form.pdf).