JAMA Network | JAMA: The Journal of the American Medical Association | Cases of Congenital Adrenal Hyperplasia Missed by Newborn Screening in Minnesota

JAMA Network | JAMA: The Journal of the American Medical Association | Cases of Congenital Adrenal Hyperplasia Missed by Newborn Screening in Minnesota

Research Letters | June 13, 2012

Cases of Congenital Adrenal Hyperplasia Missed by Newborn Screening in Minnesota

Kyriakie Sarafoglou, MD; Katie Banks, BS; Jennifer Kyllo, MD; Siobhan Pittock, MD; William Thomas, PhD

[+] Author Affiliations

JAMA. 2012;307(22):2371-2374. doi:10.1001/jama.2012.5281

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To the Editor: The purpose of newborn screening (NBS) for congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency is the early identification of newborns with the classic salt-wasting (SW) and simple-virilizing (SV) forms to avoid a potentially life-threatening adrenal or salt-wasting crisis. Cases of classic CAH missed by NBS (false-negatives) are not well documented.¹