Test Catalog

Test Id : CAH21

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Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum

Useful For
Suggests clinical disorders or settings where the test may be helpful

Preferred screening test for congenital adrenal hyperplasia (CAH) that is caused by 21-hydroxylase deficiency


Part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

Preferred screening test for congenital adrenal hyperplasia (CAH) that is caused by 21-hydroxylase deficiency. Also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH.

Profile Information
A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test Id Reporting Name Available Separately Always Performed
CORTI Cortisol, S Yes, (order CINP) Yes
ANDRO Androstenedione, S Yes, (order ANST) Yes
H17 17-Hydroxyprogesterone, S Yes, (order OHPG) Yes

Method Name
A short description of the method used to perform the test

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

Portions of this test are covered by patent(s) held by Quest Diagnostics

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

CAH 21-Hydroxylase Profile

Lists additional common names for a test, as an aid in searching

17-OHP (17-Hydroxyprogesterone)

21 Hydroxylase Deficiency



CAH (Congenital Adrenal hyperplasia)





17-Alpha Hydroxyprogesterone (17-OHP)

Progesterone, 17-Alpha Hydroxy

Specimen Type
Describes the specimen type validated for testing

Serum Red


Question ID Description Answers
COLT1 Collection Time in Military Time

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Collection Container/Tube: Red top

Specimen Volume: 0.6 mL

Submission Container/Tube: Plastic vial

Collection Instructions:

1. Morning (8 a.m.) and afternoon (4 p.m.) specimens are preferred.

2. Include time of draw.

3. Centrifuge and aliquot serum into a plastic vial.

Additional Information: If multiple specimens are collected, send separate order for each specimen.


Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.25 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus OK
Other Serum gel tube

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

Preferred screening test for congenital adrenal hyperplasia (CAH) that is caused by 21-hydroxylase deficiency


Part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

Preferred screening test for congenital adrenal hyperplasia (CAH) that is caused by 21-hydroxylase deficiency. Also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The cause of congenital adrenal hyperplasia (CAH) is an inherited genetic defect that results in decreased formation of 1 of the many enzymes that are involved in the production of cortisol. The enzyme defect results in reduced glucocorticoids and mineralocorticoids, and elevated 17-hydroxyprogesterone (OHPG) and androgens. The resulting hormone imbalances can lead to life-threatening, salt-wasting crises in the newborn period and incorrect gender assignment of virilized 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 positions to produce cortisol. Deficiency of either 11- or 21-hydroxylase results in decreased cortisol synthesis, and the feedback inhibition of adrenocorticotropic hormone (ACTH) secretion is lost. Consequently, increased pituitary release of ACTH increases production of OHPG. In contrast, if 17-alpha-hydroxylase (which allows formation of OHPG from progesterone) or 3-beta-ol-dehydrogenase (which allows formation of 17-hydroxyprogesterone formation from 17-hydroxypregnenolone) are deficient, OHPG levels are low with possible increase in progesterone or pregnenolone, respectively.


Most (90%) cases of CAH are due to mutations in the 21-hydroxylase gene (CYP21A2). CAH due to 21-hydroxylase deficiency is diagnosed by confirming elevations of OHPG and androstenedione with decreased cortisol. 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 (DCRN / 11-Deoxycorticosterone, Serum), respectively, are necessary for diagnosis.


OHPG is bound to both transcortin 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 than pregnanetriol measurement are available to diagnose disorders of steroid metabolism.


The CAH profile allows the simultaneous determination of OHPG, androstenedione, and cortisol. These steroids can also be ordered individually (OHPG / 17-Hydroxyprogesterone, Serum; ANST / Androstenedione, Serum; CINP / Cortisol, Serum, LC-MS/MS).

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.


5-25 mcg/dL (a.m.)

2-14 mcg/dL (p.m.)

Pediatric reference ranges are the same as adults, as confirmed by peer-reviewed literature. 

Petersen KE: ACTH in normal children and children with pituitary and adrenal diseases. I. Measurement in plasma by radioimmunoassay-basal values. Acta Paediatr Scand 1981;70:341-345



Premature infants
26-28 weeks, day 4: 92-282 ng/dL
31-35 weeks, day 4: 80-446 ng/dL
Full-term infants
1-7 days: 20-290 ng/dL
1 month-1 year: <69 ng/dL



Tanner Stages

Age (Years)

Reference Range (ng/dL)

Stage I (prepubertal)



Stage II



Stage III



Stage IV



Stage V





Tanner Stages

Age (Years)

Reference Range (ng/dL)

Stage I (prepubertal)



Stage II



Stage III



Stage IV



Stage V



*Source: Androstenedione. In Pediatric Reference Ranges. Fourth Edition. Edited by SJ Soldin, C Brugnara, EC Wong. Washington, DC, AACC Press, 2003, pp 32-34


Males: 40-150 ng/dL
Females: 30-200 ng/dL




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


Males: <220 ng/dL


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

Provides information to assist in interpretation of the test results

Diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH) always requires the measurement of several steroids. Patients with CAH due to 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 CYP11A 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.


Also less common is 3 beta-hydroxysteroid dehydrogenase type 2 (3 beta HSD-2) deficiency, characterized by low cortisol and substantial elevations in dehydroepiandrosterone sulfate (DHEA-S) and 17-alpha-hydroxypregnenolone, while androstenedione is either low, normal, or rarely, very mildly elevated (as a consequence of peripheral tissue androstenedione production by 3 beta HSD-1).


In the very rare steroidogenic acute regulatory protein deficiency, all steroid hormone levels are low and cholesterol is elevated.


In the also very rare 17-alpha-hydroxylase deficiency, androstenedione, all other androgen-precursors (17-alpha-hydroxypregnenolone, OHPG, DHEA-S), androgens (testosterone, estrone, estradiol), and cortisol are low, while production of mineral corticoid and its precursors, in particular progesterone, 11-deoxycorticosterone, corticosterone, and 18-hydroxycorticosterone, are increased.


The goal of CAH treatment is normalization of cortisol levels and, ideally, also of sex-steroid levels. OHPG is measured to guide treatment, but this test correlates 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 up to 100 ng/dL are usually regarded as acceptable.

Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Androstenedione and, to a lesser degree, dehydroepiandrosterone sulfate supplements can result in elevations of serum androstenedione level. With large androstenedione doses of 300 to 400 mg/day, serum androstenedione levels can almost double in some patients. Testosterone levels and, particularly in men, estrone and estradiol levels may also increase, but to a much lesser degree.


This test provides merely supplementary information and should, therefore, never be employed as the sole diagnostic tool.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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 PF: 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

Method Description
Describes how the test is performed and provides a method-specific reference

Deuterated stable isotopes (d4-cortisol, d7-androstenedione, d8-17-hydroxyprogesterone) are added to a 0.1-mL serum sample as internal standards. Cortisol, androstenedione, 17-hydroxyprogesterone, and the internal standards are extracted from specimens using a Strata X 30-mg cartridge and eluted from the cartridge with methanol. The extracts are then dried down under nitrogen, reconstituted with 75 mcL of 70/30 methanol/H2O containing 1 g/mL of estriol and analyzed by liquid chromatography-tandem mass spectrometry using multiple-reaction monitoring. A calibration curve is generated by spiking standards into a bovine serum albumin buffer and extracted with each batch of new working internal standard. Controls are extracted with each batch.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information


Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

2 to 5 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

See Individual Unit Codes

Performing Laboratory Location
Indicates the location of the laboratory that performs the test


Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.


82533-Cortisol; total

83498-Hydroxyprogesterone, 17-d

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CAH21 CAH 21-Hydroxylase Profile 79221-8
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
30041 Androstenedione, S 1854-9
30042 17-Hydroxyprogesterone, S 1668-3
30040 Cortisol, S 2143-6
30070 AM Cortisol 9813-7
30071 PM Cortisol 9812-9

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports

Test Update Resources

Change Type Effective Date
Test Status - Test Down 2023-02-28
Test Status - Test Delay 2023-02-21