title: 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.
authors.affiliation: Department of Pediatrics, Tokai University School of Medicine, Kanagawa, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Shinohara
authors.forename: H
authors.initials: H
authors.lastname: Ishiguro
authors.forename: T
authors.initials: T
authors.lastname: Shinagawa
authors.forename: C
authors.initials: C
authors.lastname: Kubota
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D015997:Neonatal Screening; D011237:Predictive Value of Tests