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Test Code (รหัสการทดสอบ):
090-31-4019

Order Name (ชื่อการทดสอบ):
11-Deoxycorticosterone, Serum **

 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ Plain blood (Red top) 6 mL, 2 tubes
 
Turnaround Time (ระยะเวลารอผล):
Received specimen to report within 21 days
 
Useful For (ประโยชน์การทดสอบ):

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11 beta-hydroxylase 1 (CYP11B1) versus 11 beta-hydroxylase 2 (CYP11B2) deficiency

Diagnosis of glucocorticoid-responsive hyperaldosteronism

Evaluating congenital adrenal hyperplasia newborn screen-positive children, when elevations of 17-hydroxyprogesterone are only moderate, suggesting possible 11-hydroxylase deficiency

 
Methodology (วิธีการทดสอบ):
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
 
AliasesName (ชื่อเรียกอื่นๆ) :
DOCS
DOC
11-deoxycorticosterone
Deoxycorticosterone
21-hydroxyprogesterone
Desoxycortone
INN
Deoxycortone
BAN
Cortexone
Substance Q
desoxy compound B
21-Hydroxy-4-pregnene-3,20-dione
 
 
 
Test Code (รหัสการทดสอบ):
090-31-4019

Order Name (ชื่อการทดสอบ):
11-Deoxycorticosterone, Serum **

 
Patient Preparation (การเตรียมตัวผู้ป่วย):
Collection Instructions: Morning (8 a.m.) specimen is preferred.
 
Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ Plain blood (Red top) 6 mL, 2 tubes
 
Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):
Serum, minimum volume 2 mL
 
Sub Mission Container (ภาชนะส่งตรวจ):
Plastic tube
 
Rejection Criteria (เกณฑ์ปฏิเสธสิ่งส่งตรวจ):
Hemolysis: Gross reject
Lipemia: Gross OK
Icterus: Gross OK
 
Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):
Specimen Type Temperature Time
Serum Ambient 7 days
Serum Refrigerated, 2oC to 8oC (preferred) 21 days
Serum Frozen 21 days
 
 
 
Test Code (รหัสการทดสอบ):
090-31-4019

Order Name (ชื่อการทดสอบ):
11-Deoxycorticosterone, Serum **

 
Method detail (วิธีการทดสอบ):
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
 
Schedule (ตารางการทดสอบ):
N/A **Sent out to MAYO, USA
 
Turnaround Time (ระยะเวลารอผล):
Received specimen to report within 21 days
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
MAYO Laboratory
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code (รหัสการทดสอบ):
090-31-4019

Order Name (ชื่อการทดสอบ):
11-Deoxycorticosterone, Serum **

 
 
Clinical Information (ข้อมูลทางคลินิก):
11-Deoxycorticosterone represents the last intermediate in the mineral corticoid pathway that has negligible mineral corticoid activity. It is converted by 11-beta-hydroxylase 2 (CYP11B2) or by 11-beta-hydroxylase 1 (CYP11B1) to the first mineral corticoids with significant activity, corticosterone. Corticosterone is in turn converted to 18-hydroxycorticosterone and finally to aldosterone, the most active mineral corticoid. Both of these reactions are catalyzed by CYP11B2, which, unlike its sister enzyme CYP11B1, also possesses 18-hydroxylase and 18-methyloxidase activity.

Measurement of 11-deoxycorticosterone and its glucocorticoid pendant, 11-deoxycortisol (also known as compound S), is aimed at diagnosing:
- CYP11B1 deficiency (associated with cortisol deficiency)
- The rarer CYP11B2 deficiency (no cortisol deficiency) 
- The yet less common glucocorticoid-responsive hyperaldosteronism (where expression of the gene CYP11B2 is driven by the CYP11B1 promoter, thus making it responsive to adrenocorticotrophic hormone: ACTH rather than renin)

Cortisol should be measured in all cases of suspected CAH.

In the diagnosis of suspected 11-hydroxylae deficiency and glucocorticoid-responsive hyperaldosteronism, this test should be used in conjunction with measurements of 11-deoxycortisol, corticosterone, 18-hydroxycorticosterone, cortisol, renin, and aldosterone.

 
Reference Value (ค่าอ้างอิง):

< or =18 years: <30 ng/dL
>18 years: <10 ng/dL

 
Interpretation (การแปลผล):
In 11 beta-hydroxylase 1 (CYP11B1) deficiency, serum concentrations of cortisol will be low (usually <7 microgram/dL for a morning draw). 11-Deoxycortisol and 11-deoxycorticosterone are elevated, usually to at least 2 to 3 times (more typically 20-300 times) the upper limit of the normal reference range on a morning blood draw. Elevations in 11-deoxycortisol are usually relatively greater than those of 11-deoxycorticosterone, because of the presence of intact 11 beta-hydroxylase 2 (CYP11B2). For this reason, serum concentrations of all potent mineral corticoids (corticosterone, 18-hydroxycorticosterone, and aldosterone) are typically increased above the normal reference range. Plasma renin activity is correspondingly low or completely suppressed. Caution needs to be exercised in interpreting the mineral corticoid results in infants younger than 7 days; mineral corticoid levels are often substantially elevated in healthy newborns in the first few hours of life and only decline to near-adult levels by week

In CYP11B2 deficiency, serum cortisol concentrations are usually normal, including a normal response to ACTH1-24. 11-Deoxycorticosterone will be elevated, often more profoundly than in CYP11B1 deficiency, while 11-deoxycortisol may or may not be significantly elevated. Serum corticosterone concentrations can be low, normal, or slightly elevated, while serum 18-hydroxycorticosterone and aldosterone concentrations will be low in the majority of cases. However, if the underlying genetic defect has selectively affected 18-hydroxylase activity, corticosterone concentrations will be substantially elevated. Conversely, if the deficit affects aldosterone synthase function primarily, 18-hydroxycorticosterone concentrations will be very high.
 
Clinical Reference (เอกสารอ้างอิง):
www.mayomedicallaboratories.com (Retrieved: 7 Jul 2020)