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AAP Grand Rounds 2:45-46 (1999)
© 1999 American Academy of Pediatrics

ENDOCRINOLOGY

Genotyping as Part of Congenital Adrenal Hyperplasia Screening

Source: Nordenström A, Thilén A, Hagenfeldt L, Larsson A, Wedell A. Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1999;84(5):1505–1509.

The first 20% of the full text of this article appears below.

Approximately 20 states and numerous countries perform neonatal screening for congenital adrenal hyperplasia (CAH), a disease that has an incidence of approximately 1 in 10,000. More than 95% of cases of CAH are due to 21-hydroxylase deficiency, which results in elevated levels of 17-hydroxyprogesterone (17-OHP) which is used as a marker for this condition. Most screening programs depend on analysis of filter paper blood 17-OHP concentrations obtained from heelstick sampling. Recently, genotype screening for CAH has been developed with approximately 10 gene deletions or sequence aberrations accounting for most cases. Between 1986 and 1997, 114 children were diagnosed with CAH in Sweden . . . [Full Text of this Article]

Kenneth Copeland, MD, FAAP
Pediatrics, Baylor College of Medicine, Houston, TX