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Test Code:
090-31-4005

Order Name:
Pregnenolone, Serum **

 
Useful For:

An ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of 21-hydroxylase and 11-hydroxylase deficiency have been ruled out

Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency

 
Methodology:
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
 
 
 
Test Code:
090-31-4005

Order Name:
Pregnenolone, Serum **

 
Patient Preparation:
N/A
 
Collection Specimen Or Container:
Blood/ Plain blood (Red top) 6 mL, 2 tubes
 
 
Specimen Testing Type:
Serum, minimum volume 1 mL x 2 tubes
 
 
Sub Mission Container:
Plastic tube
 
Rejection Criteria:
N/A
 
Specimen Stabillity:
Specimen Type Temperature Time
Serum Frozen  28 days
 
 
 
Test Code:
090-31-4005

Order Name:
Pregnenolone, Serum **

 
Method detail:
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
 
Schedule:
N/A **Sent out to MAYO, USA
 
Turnaround Time:
Received specimen to reported within 14 days
(exception for official holidays)
 
Performing Location:
MAYO Laboratory 
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code:
090-31-4005

Order Name:
Pregnenolone, Serum **

 
 
Clinical Information:

Pregnenolone, Serum is an ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of 21-hydroxylase and 11-hydroxylase deficiency have been ruled out, Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency.

 
Reference Value:
Refer to Mayo Reference range มีการแปลผลตามเพศและอายุ
 
Interpretation:

Diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH) always require 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-fold to 10-fold elevations. 17-Hydroxyprogesterone (17-OHPG) levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested.

For the HSD3B2 mutation, cortisol, 17-OHPG and progesterone levels will be will be decreased; 17-hydroxypregnenolone and pregnenolone and dehydroepiandrosterone levels will be increased.

In the much less common CYP11A1 mutation, androstenedione levels are elevated to a similar extent as seen in CYP21A2 mutation, and cortisol also is low, but 17-OHPG is only mildly, if at all, elevated.

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

 
Clinical Reference:
www.mayocliniclabs.com (Retrieved: 10 July 2020)