CAH 21-Hydroxylase Deficiency Monitoring Profile


Sunquest Code:CAH21  
Epic Code:LAB6304Epic Name:CAH 21-Hydroxylase Deifciency Profile
Synonyms:Congenital Adrenal Hyperplasia; 21 Hydroxylase Deficiency; CAH Panel
Methodology:Liquid chromatography/Tandem mass spectrometry (LC/MS/MS)
CPT Code:82533, 82157, 83498
Test Includes:Cortisol, Androstenedione and 17-Hydroxyprogesterone
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 2-5 days.
Special Instructions:Morning (8 a.m.) and afternoon (4 p.m.) specimens are preferred. Include time of collection with each sample.


Collection Instructions

Specimen:Blood
Optimal Volume:1.2 mL
Minimum\Peds Volume:0.7 mL
Causes for Rejection:Gross hemolysis or lipemia; collection in a serum gel tube.


Processing and Shipping

Specimen Processing:Centrifuge and aliquot 0.6 mL, 0.25 mL minimum. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature.
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:CAH21


Interpretive

Reference Range:

Cortisol

a.m.

5-25 mcg/dL

p.m.

2-14 mcg/dL

 

 

Androstenedione

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 d

20-290 ng/dL

1 mo-1y

Less than 69 ng/dL

 

Tanner Stages,
Males

Age (Years)

Reference Range

(ng/dL)

Stage I (prepubertal)

Less than 9.8

Less than 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

 

Tanner Stages, Females

Age (Years)

Reference Range

(ng/dL)

Stage I (prepubertal)

Less than 9.2

Less than 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

 

Adult Males

40-150 ng/dL

Adult Females

30-200 ng/dL

 

 

17-Hydroxyprogesterone

Preterm infants

May exceed 630 ng/dL; however it is uncommon to see levels reach 1,000 ng/dL

Term infants: 0-28 d

Less than 630 ng/dL

Levels fall from newborn (less than 630 ng/dL) to prepubertal gradually within 6 months.

 

Prepubertal males

Less than 110 ng/dL

Prepubertal females

Less than 100n g/dL

Adult males

Less than 220 ng/dL

Adult females:

       Follicular

       Luteal

       Postmenopausal

 

Less than 80 ng/dL

Less than 285 ng/dL

Less than 51 ng/dL

 

 

 

 

Use:Preferred screening test for 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.


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