False Negatives at Neonatal Screening for Congenital Adrenal Hyperplasia in Two Siblings with 21 -Hydroxylase Deficiency.
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Accession number;99A0461609
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| Title;False Negatives at Neonatal Screening for Congenital Adrenal Hyperplasia in Two Siblings with 21 -Hydroxylase Deficiency. |
| Author;
SHINOHARA O
(Tokai Univ. School Of Medicine, Kanagawa, Jpn)
ISHIGURO H
(Tokai Univ. School Of Medicine, Kanagawa, Jpn)
SHINAGAWA T
(Tokai Univ. School Of Medicine, Kanagawa, Jpn)
KUBOTA C
(Tokai Univ. School Of Medicine, Kanagawa, Jpn)
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Journal Title;Endocr J
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Journal Code:F0625A
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ISSN:0918-8959
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VOL.45;NO.3;PAGE.427-430(1998)
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| Figure&Table&Reference;TBL.2, REF.6 |
| Pub. Country;Japan |
| Language;English |
| Abstract;We report on two siblings with classic simple virilizing 21-hydroxylase deficiency whose neonatal screening for serum 17.ALPHA.-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. (author abst.) |
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