21-hydroxylase deficiency laboratory findings: Difference between revisions

Jump to navigation Jump to search
Line 2: Line 2:
{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
==Overview==  
==Overview==
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type. 17-hydroxyprogesterone level and cosintropin stimulation test can be used to diagnosis.


==Laboratory Findings==
==Laboratory Findings==


Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type.
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type.<ref name="pmid12930931">{{cite journal |vauthors=Speiser PW, White PC |title=Congenital adrenal hyperplasia |journal=N. Engl. J. Med. |volume=349 |issue=8 |pages=776–88 |year=2003 |pmid=12930931 |doi=10.1056/NEJMra021561 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref>


{| class="wikitable"
{| class="wikitable"
!21-hydroxylase deficiency type
!21-hydroxylase deficiency type
!17-hydroxyprogesterone level
!17-hydroxyprogesterone level
!ACTH stimulation testing in high-dose test (250 mcg)
!Cosintropin stimulation testing in high-dose test (250 mcg)
|-
|-
|classic salt wasting
|Classic salt wasting
|greater than 3500 ng/dL
|* Greater than 3500 ng/dL
|Not necessary
|* Not necessary
|-
|-
|classic non-salt wasting
|Classic non-salt wasting
|greater than 3500 ng/dL
|* Greater than 3500 ng/dL
|Not necessary
|* Not necessary
|-
|-
|Non-classic type
|Non-classic type
|
|* Children greater than 82 ng/dL  
* Children greater than 82 ng/dL  
* Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle  
* Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle  
|
|* Needs for confirmation
* Needs for confirmation
|}
|}


===Salt-wasting crises in infancy in classic type===
===Salt-wasting crises in infancy in classic type===
* Low serum cortisol level
* [[hyponatremia]], with a serum Na<sup>+</sup> typically between 105 and 125 mEq/L
* [[hyponatremia]], with a serum Na<sup>+</sup> typically between 105 and 125 mEq/L
* [[Hyperkalemia]] in these infants can be very high
* [[Hyperkalemia]] in these infants can be very high
* Metabolic acidosis
* Metabolic acidosis
* [[Hypoglycemia]] may be present.
* [[Hypoglycemia]]  
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Revision as of 16:17, 14 July 2017

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

21-hydroxylase deficiency laboratory findings On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of 21-hydroxylase deficiency laboratory findings

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on 21-hydroxylase deficiency laboratory findings

CDC on 21-hydroxylase deficiency laboratory findings

21-hydroxylase deficiency laboratory findings in the news

Blogs on 21-hydroxylase deficiency laboratory findings

Directions to Hospitals Treating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Risk calculators and risk factors for 21-hydroxylase deficiency laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]

Overview

Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type. 17-hydroxyprogesterone level and cosintropin stimulation test can be used to diagnosis.

Laboratory Findings

Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type.[1][2]

21-hydroxylase deficiency type 17-hydroxyprogesterone level Cosintropin stimulation testing in high-dose test (250 mcg)
Classic salt wasting * Greater than 3500 ng/dL * Not necessary
Classic non-salt wasting * Greater than 3500 ng/dL * Not necessary
Non-classic type * Children greater than 82 ng/dL
  • Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle
* Needs for confirmation

Salt-wasting crises in infancy in classic type

References

  1. Speiser PW, White PC (2003). "Congenital adrenal hyperplasia". N. Engl. J. Med. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.
  2. White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.