MAUDE data represents reports of adverse events involving medical devices. This maude entry was filed from a 05,06 report with the FDA on 2009-03-06 for AUTODELFIA NEONATAL 17A-OH-PROGESTERONE manufactured by Wallac Oy, Perkinelmer Las.
[1076164]
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.
Patient Sequence No: 1, Text Type: D, B5
[8222872]
(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.
Patient Sequence No: 1, Text Type: N, H10
| Report Number | 8043909-2009-00001 |
| MDR Report Key | 1338190 |
| Report Source | 05,06 |
| Date Received | 2009-03-06 |
| Date of Report | 2009-05-03 |
| Date of Event | 2008-09-12 |
| Date Mfgr Received | 2009-02-06 |
| Device Manufacturer Date | 2008-05-01 |
| Date Added to Maude | 2010-08-27 |
| Event Key | 0 |
| Report Source Code | Manufacturer report |
| Manufacturer Link | Y |
| Number of Patients in Event | 0 |
| Adverse Event Flag | 3 |
| Product Problem Flag | 3 |
| Reprocessed and Reused Flag | 3 |
| Health Professional | 3 |
| Initial Report to FDA | 3 |
| Report to FDA | 0 |
| Event Location | 0 |
| Manufacturer Contact | TOM STAHLBERG, SENIOR MGR |
| Manufacturer Street | P.O. BOX 10 |
| Manufacturer City | TURKU FI-20101 |
| Manufacturer Country | FI |
| Manufacturer Postal | FI-20101 |
| Manufacturer Phone | 22678111 |
| Single Use | 3 |
| Previous Use Code | 3 |
| Event Type | 3 |
| Type of Report | 3 |
| Brand Name | AUTODELFIA NEONATAL 17A-OH-PROGESTERONE |
| Generic Name | FLUOROIMMUNNOASSAY/17-OH-PROGESTERONE |
| Product Code | JLX |
| Date Received | 2009-03-06 |
| Operator | HEALTH PROFESSIONAL |
| Device Availability | Y |
| Device Age | DA |
| Device Eval'ed by Mfgr | R |
| Device Sequence No | 1 |
| Device Event Key | 0 |
| Manufacturer | WALLAC OY, PERKINELMER LAS |
| Manufacturer Address | TURKU FI-20101 FI FI-20101 |
| Patient Number | Treatment | Outcome | Date |
|---|---|---|---|
| 1 | 0 | 1. Other | 2009-03-06 |