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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1999-1-7
|
| pubmed:abstractText |
We report on two siblings with classic simple virilizing 21-hydroxylase deficiency whose neonatal screening for serum 17alpha-hydroxyprogesterone (17-OHP) gave normal results. The proband, a girl with clitoromegaly whose screening 17-OHP value had been 9.2 ng/ml, was diagnosed at the age of 6 months, and her elder brother with the initial screening level of 15.7 ng/ml was diagnosed at the age of 6 years due to precocious puberty. Although the occurrence of false-negative cases is extremely rare, it can happen in a simple virilizing form of 21-hydroxylase deficiency. This experience informs that normal results for neonatal screening cannot be an excuse for not evaluating siblings of the proband with congenital adrenal hyperplasia.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0918-8959
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
45
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
427-30
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading | |
| pubmed:year |
1998
|
| pubmed:articleTitle |
False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.
|
| pubmed:affiliation |
Department of Pediatrics, Tokai University School of Medicine, Kanagawa, Japan.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|