A Pilot Newborn Screening for Congenital Adrenal Hyperplasia in Alaska*
| Autor: | Antonette Leon, Stephen H. LaFranchi, Maria I. New, Lenore S. Levine, Songya Pang, David A. Spence, Ali S. Surve, William H. Murphey |
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| Rok vydání: | 1982 |
| Předmět: |
Male
Paper Heterozygote Pediatrics medicine.medical_specialty Endocrinology Diabetes and Metabolism Clinical Biochemistry Day of life Biochemistry Endocrinology Gene Frequency Internal medicine Hydroxyprogesterones medicine Humans Congenital adrenal hyperplasia Newborn screening Adrenal Hyperplasia Congenital business.industry Homozygote Biochemistry (medical) Infant Newborn medicine.disease Second specimen Inuit Female business Alaska |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 55:413-420 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jcem-55-3-413 |
| Popis: | 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 t... |
| Databáze: | OpenAIRE |
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