21-hydroxylase deficiency laboratory findings

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
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.

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	Children: greater than 82 ng/dL Adult females: greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle	Necessary for confirmation

Salt-wasting crises in infancy in classic type

• Low serum cortisol level
• Hyponatremia, with a serum sodium typically between 105 mEq/L and 125 mEq/L
• Hyperkalemia in these infants can be very high
• Metabolic acidosis
• Hypoglycemia

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

Template:WH Template:WS​