BEUDAMED
    FDA Adverse Event Other Summary report: N

    AUTODELFIA NEONATAL 17A-OH-PROGESTERONE

    MDR report key: 1338190 · Received March 6, 2009

    Report

    Report Number
    8043909-2009-00001
    Event Type
    Other
    Date Received
    March 6, 2009
    Date of Event
    September 12, 2008
    Report Date
    May 3, 2009
    Manufacturer
    WALLAC OY, PERKINELMER LAS
    Product Code
    JLX
    PMA / PMN Number
    K042425
    Report Source
    Manufacturer report
    Reporter Location
    OH, US
    Reporter Occupation
    OTHER

    Narratives

    Additional Manufacturer Narrative · 1

    (B)(4).THE KIT LOT CONCERNED IS PERFORMING ACCORDING TO ITS SPECIFICATIONS. THEREFORE, NO RECALL NEED HAS BEEN IDENTIFIED. THE KIT IS INTENDED FOR THE QUANTITATIVE DETERMINATION OF 17A-OH-PROGESTERONE IN BLOOD SPECIMENS AS AN AID IN SCREENING NEWBORNS FOR CONGENITAL ADRENAL HYPERPLASIA (CAH). THERE ARE VARIOUS CONGENITAL ENZYME DEFECTS OF THE STEROID BIOSYNTHESIS WHICH CAUSE CAH. A 17A-OH-PROGESTERONE IS INCREASED IN CAH DUE TO 21- AND 11B-HYDROXYLASE DEFICIENCY, BUT NOT IN OTHER TYPES. CAH DUE OT 21-HYDROXYLASE CAN BE CAUSED BY MULTIPLE DIFFERENT GENE MUTATIONS AND THE PHENOTYPE IS EXPRESSED DIFFERENTLY DEPENDING ON THE RESULTING ENZYME DEFICIENCY (MISSING OR VARIOUSLY REDUCED ACTIVITY OF THE ENZYME). THE GENETIC TESTS REVEALED IN THIS PARTICULAR CASE TWO MUTATIONS, GENE CONVERSION AND A HETEROZYGOUS EXON 4 (I172N) MUTATION. THE PHENOTYPE IS RELATED TO THE MILD I172N MUTATION. CONSISTENT WITH THIS MUTATION IS AMBIGUOUS GENITALIA, AND LOW 17-OH-PROGESTERONE. LOW RESULTS FOUND BY THE AUTODELFIA TEST IS NOT CONFLICTING WITH THE CLINICAL PICTURE. HOWEVER, AS THE 17-OHP RESULTS WERE IN CONFLICT WHEN DIFFERENT METHODS ARE COMPARED, WE DECIDED TO FILE THIS REPORT. IF THE AUTODELFIA HAS GIVEN FALSELY LOW RESULTS, IT MAY HAVE BEEN DUE TO SAMPLING AT 4 DAYS 18H WHEREAS SAMPLING IS USUALLY DONE AT 24 H OR 48 H AFTER BIRTH AND FOR WHICH EXPECTED VALUES ARE ESTABLISHED. ANOTHER REASON COULD BE THAT THE SAMPLE TAKEN CONTAINED EDTA, WHICH IS NOT ALLOWED IN THE INSTRUCTIONS FOR USE. BECAUSE THE SAMPLING WAS PERFORMED AT A HOSPITAL NOT ROUTINELY INVOLVED IN NEONATAL SCREENING THIS MAY HAVE BEEN OVERLOOKED.

    Description of Event or Problem · 1

    GIRL WITH AMBIGUOUS GENITALIA BORN (B)(6)2008 WAS TRANSFERRED TO (B)(6) HOSPITAL (B)(6)2008. ELEVATED POTASSIUM WAS FOUND AND THE CHILD WAS TREATED FOR SALT WASTING CONGENITAL ADRENAL HYPERPLASIA (CAH) (B)(6)2008, ALTHOUGH CORTISOL /DHEA/ SODIUM/CHLORIDE WERE NOT ELEVATED AS WOULD BE TYPICAL FOR SALT WASTING 21-HYDROXYLASE CAH. A 17A-OH-PROGESTERONE (17-OHP) WAS ELEVATED BY ESOTERIX METHOD (B)(6)2008 AND SCREENING (DBS) 17-OHP VALUE (AUTODELFIA) WAS IN LOW RISK RANGE FOR CAH (B)(6)2008. THE REASONS OF THE LOW SCREENING VALUE IS NOT KNOWN. THE KIT LOT CONCERNED PERFORMED ACCORDING TO ITS SPECIFICATIONS; NO LABORATORY PROBLEMS OR OTHER COMPLAINTS REPORTED. STEROID PROFILE OBTAINED FROM MAYO CLINIC: NOT CONSISTENT WITH CAH DUE OT 21-HYDROXYLASE DEFICIENCY AND THE CASE WAS CLOSED. GENETIC RESULTS (B)(6)2009 SHOWED THAT IT WAS CAH DUE TO 21-HYDROXYLASE DEFICIENCY (HETEROZYGOTE GENE CONVERSION MUTATION AND A HETEROZYGOUS EXON 4 (I172N) MUTATION) AND DUE TO THIS WE REOPENED THE CASE. THE MILD I172N MUTATION DRIVES THE PHENOTYPE AND IS CONSISTENT WITH AMBIGUOUS GENITALIA AND LOW 17-OHP.

    Devices

    Seq Brand Generic Product Code Manufacturer Model Lot UDI-DI
    1 AUTODELFIA NEONATAL 17A-OH-PROGESTERONE FLUOROIMMUNNOASSAY/17-OH-PROGESTERONE JLX WALLAC OY, PERKINELMER LAS

    Patients

    Seq Age Sex Outcome Treatment
    1 4 DA Other