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Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing

Nils Janzen1, Felix G Riepe, Michael Peter

  • 1Department of Neuropediatrics, Children's Hospital, Ruhr University of Bochum, Bochum, Germany. n.janzen@klinikum-bochum.de

Hormone Research in Paediatrics
|April 18, 2012
PubMed

Insights

Newborn screening for congenital adrenal hyperplasia (CAH) can now detect both 21-hydroxylase deficiency (21-OHD) and 11β-hydroxylase deficiency (11-OHD). Second-tier testing using steroid profiling identifies 11-OHD cases missed by initial 17-hydroxyprogesterone screening.

Area of Science:

  • Endocrinology
  • Newborn Screening
  • Mass Spectrometry

Background:

  • Congenital adrenal hyperplasia (CAH) is screened in newborns, primarily targeting 21-hydroxylase deficiency (21-OHD).
  • Second-tier testing is crucial for identifying other CAH-causing conditions, such as 11β-hydroxylase deficiency (11-OHD).

Observation:

  • A 5-year newborn screening program analyzed 986,098 infants using 17α-hydroxyprogesterone (17-OHP) immunoassay.
  • Positive immunoassay results underwent liquid chromatography-tandem mass spectrometry (LC-MS/MS) for steroid profiling.

Findings:

  • The study identified 78 cases of 21-OHD and 5 cases of 11-OHD.
  • 11-OHD diagnosis was characterized by elevated 11-deoxycortisol and androstenedione, with low cortisol and normal 21-deoxycortisol.
  • Elevated 17-OHP in initial screening aids in differentiating 21-OHD from 11-OHD.

Implications:

  • Steroid profiling via LC-MS/MS enhances newborn screening by enabling differentiation between 21-OHD and 11-OHD.
  • Current methods may miss some 11-OHD cases if initial 17-OHP levels are not elevated.
Abstract

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