False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency.

Abstract:

: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.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Shinohara O,Ishiguro H,Shinagawa T,Kubota C

doi

10.1507/endocrj.45.427

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

427-30

issue

3

eissn

0918-8959

issn

1348-4540

journal_volume

45

pub_type

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