Neonatal screening for congenital adrenal hyperplasia

Research output: Contribution to journalArticle

117 Citations (Scopus)

Abstract

Congenital adrenal hyperplasia (CAH) caused by steroid 21-hydroxylase deficiency occurs in 1:16,000-1:20,000 births. If not promptly diagnosed and treated, CAH can cause death in early infancy from shock, hyponatremia and hyperkalemia. Affected girls usually have ambiguous genitalia but boys appear normal; therefore, newborn babies are commonly screened for CAH in the US and many other countries. By identifying babies with severe, salt-wasting CAH before they develop adrenal crises, screening reduces morbidity and mortality, particularly among affected boys. Diagnosis is based on elevated levels of 17-hydroxyprogesterone, the preferred substrate for steroid 21-hydroxylase. Initial testing usually involves dissociation-enhanced lanthanide fluorescence immunoassay that has a low positive predictive value (about 1%), which leads to many follow-up evaluations that have negative results. The positive predictive value might be improved by second-tier screening using DNA-based methods or liquid chromatography followed by tandem mass spectrometry, but these methods are not widely adopted. Cost estimates for such screening range from US20,000 to 300,000 per life-year saved. In babies with markedly abnormal screen results, levels of serum electrolytes and 17-hydroxyprogesterone should be immediately determined, but the most reliable way to diagnose CAH is measurement of levels of steroid precursors after stimulation with cosyntropin.

Original languageEnglish (US)
Pages (from-to)490-498
Number of pages9
JournalNature Reviews Endocrinology
Volume5
Issue number9
DOIs
StatePublished - 2009

Fingerprint

Neonatal Screening
Congenital Adrenal Hyperplasia
17-alpha-Hydroxyprogesterone
Steroid 21-Hydroxylase
Cosyntropin
Disorders of Sex Development
Lanthanoid Series Elements
Hyperkalemia
Hyponatremia
Tandem Mass Spectrometry
Immunoassay
Liquid Chromatography
Electrolytes
Cause of Death
Shock
Salts
Fluorescence
Steroids
Parturition
Newborn Infant

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Neonatal screening for congenital adrenal hyperplasia. / White, Perrin C.

In: Nature Reviews Endocrinology, Vol. 5, No. 9, 2009, p. 490-498.

Research output: Contribution to journalArticle

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