21-hydroxylase deficiency laboratory findings

Jump to: navigation, search

Congenital adrenal hyperplasia main page

21-hydroxylase deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating 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

X Ray

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</small>

Directions to Hospitals Treating 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 21-hydroxylase deficiency differ in each disease sub-type. 17-hydroxyprogesterone level and cosyntropin stimulation test can be used for diagnosis.

Laboratory Findings

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

21-hydroxylase deficiency type 17-hydroxyprogesterone level High dose Cosintropin stimulation 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
  • Necessary for confirmation

Salt-wasting crises in infancy in classic type

Genetic testing

Genetic testing can detect approximately 95 percent of mutations. Genetic testing should only be done if the laboratory tests are non diagnostic or for purposes of genetic counseling.

References

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

Linked-in.jpg