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HelpTest Code CAH21 Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
Reporting Name
CAH 21-Hydroxylase ProfileUseful For
Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency
Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH
Profile Information
| 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
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Portions of this test are covered by patents held by Quest Diagnostics
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Serum RedOrdering Guidance
This profile provides the simultaneous determination of 17-hydroxyprogesterone, androstenedione, and cortisol. These steroids can also be ordered individually: OHPG / 17-Hydroxyprogesterone, Serum; ANST / Androstenedione, Serum; and CINP / Cortisol, Mass Spectrometry, Serum.
Specimen Required
Collection Container/Tube: Red top (serum gel/SST are not acceptable)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.6 mL Serum
Collection Instructions:
1. Morning (8 a.m.) and afternoon (4 p.m.) specimens are preferred.
2. Include time of collection.
3. Centrifuge and aliquot serum into a plastic vial.
Additional Information: If multiple specimens are collected, send a separate order for each specimen.
Specimen Minimum Volume
Serum: 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
| Gross hemolysis | OK |
| Gross lipemia | Reject |
| Gross icterus | OK |
Reference Values
CORTISOL
5-25 mcg/dL (a.m.)
2-14 mcg/dL (p.m.)
Pediatric reference values 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(3):341-345
ANDROSTENEDIONE
Pediatrics*
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
Males*
|
Tanner stages |
Age (Years) |
Reference range (ng/dL) |
|
Stage I (prepubertal) |
<9.8 |
<51 |
|
Stage II |
9.8-14.5 |
31-65 |
|
Stage III |
10.7-15.4 |
50-100 |
|
Stage IV |
11.8-16.2 |
48-140 |
|
Stage V |
12.8-17.3 |
65-210 |
Females*
|
Tanner stages |
Age (Years) |
Reference range (ng/dL) |
|
Stage I (prepubertal) |
<9.2 |
<51 |
|
Stage II |
9.2-13.7 |
42-100 |
|
Stage III |
10.0-14.4 |
80-190 |
|
Stage IV |
10.7-15.6 |
77-225 |
|
Stage V |
11.8-18.6 |
80-240 |
*Soldin SJ, Brugnara C, Wong EC. Androstenedione. In: Pediatric Reference Ranges. 4th ed. AACC Press; 2003:32-34
Adults
Males: 40-150 ng/dL
Females: 30-200 ng/dL
17-HYDROXYPROGESTERONE
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 values, see: Soldin OP, Guo T, Weiderpass E, Tractenberg RE, Hilakivi-Clarke L, Soldin SJ. 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
CPT Code Information
82157
82533
83498
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CAH21 | CAH 21-Hydroxylase Profile | 79221-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 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 |
Clinical Information
Congenital adrenal hyperplasia (CAH) is caused by an inherited genetic defect that results in decreased formation of one of the many enzymes required for cortisol synthesis. The enzyme defect results in decreased glucocorticoid and mineralocorticoid production and increased 17-hydroxyprogesterone (OHPG) and androgen concentrations. The resulting hormone imbalances can lead to life-threatening, salt-wasting crises in newborns and incorrect sex assignment of virilized female infants. Adult-onset CAH may cause hirsutism or infertility in women.
17-Hydroxyprogesterone is produced by the adrenal glands, ovaries, testes, and placenta. It is hydroxylated at the 11 and 21 positions to produce cortisol. Deficiency of either 11- or 21-hydroxylase decreases cortisol synthesis and disrupts feedback inhibition of adrenocorticotropic hormone (ACTH) secretion. Consequently, increased pituitary release of ACTH increases production of OHPG. In contrast, if 17-alpha-hydroxylase, which is required to form OHPG from progesterone, or 3-beta-hydroxysteriod dehydrogenase, which is required to form OHPG from 17-hydroxypregnenolone, are deficient, OHPG concentrations are low with possible increases in progesterone or pregnenolone, respectively.
Most (90%) cases of CAH are caused by genetic variants in the 21-hydroxylase gene (CYP21A2). CAH due to 21-hydroxylase deficiency is diagnosed by confirming elevations of OHPG and androstenedione concentrations with decreased cortisol concentration. By contrast, in the less common forms of CAH caused by 17-hydroxylase or 11-hydroxylase deficiency, OHPG and androstenedione concentrations are not significantly increased. Measurement of progesterone (PGSN / Progesterone, Serum) or deoxycorticosterone (DOCS / 11-Deoxycorticosterone, Serum), respectively, is necessary for diagnosis.
17-Hydroxyprogesterone binds to both transcortin and albumin. Total OHPG is measured in this assay. OHPG is metabolized to pregnanetriol, which is conjugated and excreted in the urine. More specific tests than pregnanetriol measurement are available for diagnosing disorders of steroid metabolism.
Specimen Retention Time
See Individual Unit CodesTest 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.Genetics Test Information
This is the preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. It is also useful as part of a battery of tests to evaluate female individuals with hirsutism or infertility, which can result from adult-onset CAH.
Report Available
2 to 5 daysForms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.