A pilot newborn screening for congenital adrenal hyperplasia in Alaska

Songya Pang, William Murphey, Lenore S. Levine, David A. Spence, Antonette Leon, Stephen Lafranchi, Ali S. Surve, Maria I. New

Research output: Contribution to journalArticlepeer-review

107 Scopus citations


A pilot newborn screening program for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) was conducted in Alaska using a 3-mm disc filter paper elution technique of capillary whole blood for 17-hydroxyprogesterone (17-OHP) by RIA. The filter paper specimens were provided via the mandated newborn screening program. The highest values of 17-OHP in a control population of 4569 consecutive normal neonates, aged 2–14 days, was 40 pg/disc, and the range of values for 20 newborns with proven CAH was 57–980 pg/disc. All Alaskan newborns with 17-OHP levels of 57 pg/disc or greater were referred for diagnostic workup, and initially, those with 17-OHP levels of 41–56 pg/disc were recalled for a second specimen. However, the range for recall was changed subsequently to the 17-OHP level greater than 51 pg/disc, since no newborns with 17-OHP level below 50 pg/disc were found to be affected in the initial screening. In a 30-month period, the Alaskan newborns screened on the third day of life consisted of a total of 19,677 consecutive births (13,733 Caucasians, 1,131 Yupik Eskimos, 3,173 other natives, and 1,640 others). Sixteen had 17-OHP values greater than 57 pg/disc, of which 4 (3 Yupik Eskimos and 1 Caucasian) were proven to have the salt-losing form of CAH. Of the remaining 12, 4 were not available for follow-up; 8 were distressed premature infants, including 2 infants who died with severe prematurity. In addition, 1 Yupik Eskimo newborn who was clinically suspected and treated for CAH at birth before confirmation of the diagnosis, was subsequently confirmed to have CAH by filter paper 17-OHP determination off treatment. Of the 14 newborns whose 17-OHP values were 51–56 pg/disc, 13 were recalled and proven to be normal, and 1 could not be located. Thus, the neonatal Alaskan screening, including 1 newborn who was clinically suspected for CAH, revealed 4 infants with the salt-losing form of CAH in 1,131 live births in Yupik Eskimos and 1 infant with the salt-losing form of CAH in 13,733 Caucasian live births. These data indicate a prevalence of this disorder of 1 in 282 in Yupik Eskimo live births and 1 in 13,733 in Caucasian live births. The false positive and recall rates were 0.05% and 0.1%, respectively. The present study demonstrates the feasibility of a newborn screening program for CAH and indicates that the frequency of the salt-losing form of CAH may be greater than previously reported by the case assessment method in Yupik Eskimos in Alaska.

Original languageEnglish (US)
Pages (from-to)413-420
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Issue number3
StatePublished - Sep 1982
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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