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Test ID FCAH CAH Pediatric Profile 5: 17,20 Desmolase Deficiency (Androstene-dione, Cortisol, DHEA, 17-OH-Prenenolone, Progesterone, 17-Alpha-Hydroxyprogesterone, Testosterone)

Method Name

Radioimmunoassay (RIA)

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

Reporting Name

CAH Profile 5

Specimen Type

Serum

Draw blood in a plain, red-top tube(s) or serum gel tube(s). Separate within one hour and send 3 mL of serum frozen in plastic vial. Specimens drawn in serum gel tube(s) must be poured off into a plastic screw cap vial before freezing.

Specimen Minimum Volume

1.5 mL
NOTE: Minimum volume does not allow for repeat analysis.

Specimen Stability Information

Specimen Type Temperature Time
Serum Frozen 30 days

Reference Values

Androstenedione, Mass Spec

     Units:  ng/dL

Age                                                      Range

Premature (26-28w) Day 4                      63 - 935

Premature (31-35w) Day 4                      50 - 449

Full Term (1 week)                               <10 - 279

           

Levels decrease rapidly to <52 ng/dL after one week.

 

1m-11m                                             <10 - 37

 

Androstenedione gradually decreases during the first six

months to prepubertal levels.

           

Prepubertal Children                           <10 - 17

Adult Males                                          44 - 186

Adult Females                                      28 - 230

Females Postmenopausal                   <10 – 93

 

Tanner Stages               Age (years)        Range

          1                          <9.2                 <10-17

          2                         9.2-13.7            <10-72

          3                         10.0-14.4             50-170

          4                         10.7-15.6             47-208

          5                         11.8-18.6             50-224

 

Males

Tanner Stages               Age (years)         Range

          1                          <9.8                  <10-17

          2                            9.8-14.5         <10-33

          3                         10.7-15.4             17-72 

          4                         11.8-16.2             15-115           

          5                         12.8-17.3             33-192

 

Cortisol, Serum or Plasma

     Units:  ug/dL

Age                                           Range

Premature (26-28w) Day 4          1.0 - 11

Premature (31-35w) Day 4          2.5 - 9.1

Full Term Day 3                         1.7 - 14

Full Term Day 7                         2.0 - 11

 31d - 11m                                 2.8 - 23

12m - 15y (8:00 AM)                  3 .0 - 21

 

Adults

   8:00 AM                                 8.0 - 19

   4:00 PM                                 4.0 - 11

 

Dehydroepiandrosterone (DHEA), Serum

     Units:  ng/dL

Age                                      Range

1-5 yrs                                   <68

6-7 yrs                                   <111

8-10 yrs                                 <186

11-12 yrs                                <202

13-14 yrs                                <319

15-16 yrs                                39-481

17-19 yrs                                40-491

20-49 yrs                                31-701

≥ 50 yrs                           21-402        

 

17-OH Pregnenolone, Mass Spec

      Units:  ng/dL

Age                                          Range                              

Premature (26-28w) Day 4         375 - 3559

Premature (31-35w) Day 4           64 - 2380

3 Days                                      10 - 829

1 - 5m                                       36 - 763

6 - 11m                                      42 - 540

12 - 23m                                   14 - 207

24m  - 5y                                   10 - 103

6 - 9y                                        10 - 186

Pubertal                                     44 - 235

Adults                                        53 - 357

 

Progesterone, Serum

     Units:  ng/dL

Males

Agw                                          Range                    

1-16y                                      <10-15

Adults                                     <10-11

 

Females

Age                                          Range                    

1-10y                                      <10-26

    11y                                     <10-255

    12y                                     <10-856

    13y                                     <10-693

    14y                                     <10-1204

    15y                                     <10-1076

    16y                                     <10-1294

 

Adult

Cycle Days                                Range

1-6                                           <10-17

7-12                                         <10-135

13-15                                       <10-1563

16-28                                       <10-2555

Post Menopausal                     <10

Note:  Luteal progesterone peaked from 350 to 3750 ng/dL on days

ranging from 17 to 23.

 

17-Alpha-Hydroxyprogesterone, Serum

     Units:  ng/dL    

 Age                                         Range            

Premature (26-28w) Day 4        124 - 841

Premature (31-35w) Day 4          26 - 568

 

Full-Term Day 3                          <78

 

Males: Levels increase after the first week to peak values

ranging from 40 - 200 between 30 and 60 days. Values then

decline to a prepubertal value of <91 before one year.

 

      Prepubertal                        <91     

     Adult Males                       27 - 199

Females

      1 - 11m                            13 - 106

      Prepubertal                         <91

Adult Females

      Follicular                          15 - 70

      Luteal                               35 – 290

 

Females

Tanner Stages               Age (years)       Range

          1                          <9.2                  <83

          2                         9.2-13.7            11-98

          3                         10.0-14.4           11-155

          4                         10.7-15.6           18-230

          5                         11.8-18.6           20-265

 

Males

Tanner Stages               Age (years)       Range

          1                          <9.8                   <91

          2                            9.8-14.5           <116

          3                         10.7-15.4             10-138

          4                         11.8-16.2             29-180

          5                         12.8-17.3             24-175

 

Testosterone, Serum (Total)

     Units:  ng/dL         

 Age                                                     Range

Males                                 

  Premature (26-28w) Day 4                    59 - 125

  Premature (31-35w) Day 4                    37 - 198

  Newborns                                           75 - 400

 

1 - 7m:  Levels decrease rapidly the first week to 20 - 50, then

increase to 60 - 400 between 20 - 60 days. Levels then decline

to prepubertal range levels of <2.5 - 10 by seven months.

 

Females

  Premature (26 - 28w) Day 4                  5 - 16

  Premature (31 - 35w) Day 4                  5 - 22

  Newborns                                          20 - 64

 

1 - 7m: Levels decrease during the first month to less than 10

and remain there until puberty.

 

Prepubertal Males and Females                <2.5 - 10

Adult Males  >18 years                              348 - 1197

Adult Females                                                  

            Premenopausal:                             10 - 55

            Postmenopausal:                             7 - 40

 

 Males

Tanner Stage           Age (years)             Male

      1                                 <9.8          <2.5 - 10

      2                           9.8 - 14.5           18 - 150

      3                         10.7 - 15.4          100 - 320

      4                         11.8 - 16.2          200 - 620

      5                         12.8 - 17.3          350 - 970

 

Females

Tanner Stage          Age (years)           Female

      1                              <9.2              <2.5 - 10

      2                            9.2 - 13.7           7 - 28

      3                          10.0 - 14.4          15 - 35

      4                          10.7 - 15.6          13 - 32

      5                          11.8 - 18.6          20 - 38

 

Day(s) Performed

Tuesday, Thursday through Saturday

Report Available

3 - 6 days

Performing Laboratory

Esoterix Endocrinology

CPT Code Information

82157/Androstenedione

82533/Cortisol

82626/DHEA

83498/17-OH Progesterone

84143/17-OH Pregnenolone

84144/Progesterone

84403/Testosterone

NY State Approved

Yes