STEROID PANEL: 21- HYDROXYLASE DEFICIENCY
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STEROID 21- HYDROXYLASE DEFICIENCY ACCOUNTS FOR MORE THAN 90% OF THE CASES OF CONGENITAL ADRENAL HYPERPLASIA (CAH). THE CLASSICAL FORM OF CAH PRESENTS IN CHILDHOOD WITH MARKEDLY RAISED 17- HYDROXYPREGESTERONE (17-OHP). NEONATES ARE SCREENED FOR CAH BY TESTING 17-OHP LEVELS TO REDUCE MORTALITY AND OTHER SERIOUS SEQUELAE. FALSE POSITIVE RESULTS CAN OCCUR DUE TO PHYSIOLOGICAL STRESS. STEROID PROFILING BY LCMS/MS IMPROVES THE POSITIVE PREDICTIVE VALUE OF NEWBORN SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH).
Included Tests
Androstenedione is a naturally occurring steroid hormone found in both men and women. It is a precursor to both testosterone and estrogen, meaning it can be converted into these hormones in the body. Androstenedione plays a role in various bodily functions, including muscle growth, bone density, and sexual development. While it can be found naturally in the body, it is also available as a dietary supplement. However, it is important to note that the use of androstenedione supplements can have potential health risks and is often banned in many sports due to its performance-enhancing properties.
THIS ASSAY IS PREFERRED AS A SCREENING TEST FOR CUSHING SYNDROME. IT ALSO HELPS IN THE DIAGNOSIS OF PSEUDO-HYPERALDOSTERONISM DUE TO EXCESSIVE LICORICE CONSUMPTION. THE TEST HAS LIMITED USEFULNESS IN THE EVALUATION OF ADRENAL INSUFFICIENCY.
DEOXYCORTICOSTERONE (DOC) IS A PRECURSOR OF CORTICOSTERONE AND ALDOSTERONE. HIGH LEVELS ARE OBSERVED IN PATIENTS WITH 11-HYDROXYLASE DEFICIENCY. PATIENTS WITH DOC SECRETING TUMORS ALSO EXHIBIT HYPERTENSION.
CHILDREN WITH HYPOADRENALISM EXHIBIT A GREATER DECREASE IN CORTISOL AS COMPARED WITH CORTISONE. USUALLY IN THESE CASES CORTISONE LEVELS ARE HIGHER THAN CORTISOL LEVELS AND THE CORTISONE / CORTISOL RATIO EXCEEDS 1.0. CHILDREN WITH ADRENAL CANCER EXHIBIT NORMAL OR HIGH VALUES OF CORTISOL, WHEREAS CORTISONE LEVELS ARE DECREASED AND THE CORTISONE / CORTISOL RATIO IS NEARLY ZERO. THE RATIO BECOMES NORMAL AFTER EXCISION OF ADRENAL TUMORS.
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2 ML (1 ML MIN.) SERUM FROM 1 RED TOP (NO ADDITIVE) TUBE. DO NOT USE SST GEL BARRIER TUBES. SHIP REFRIGERATED OR FROZEN. DIURNAL VARIATION PRESENT; TAKE SAMPLE BETWEEN 8-10 AM OR 4-6 PM. SPECIFY TIME AND DATE ON SPECIMEN CONTAINER AND TEST REQUEST FORM.
LC-MS / MS
REPORT ON 4TH DAY EVENING 7PM
DIURNAL VARIATION PRESENT; SAMPLE WILL BE TAKEN BETWEEN 8-10 AM OR 4-6 PM.
