| Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | |
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MedLine Citation:
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PMID: 3259306 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The need for a reliable screening test for classical congenital adrenal hyperplasia prompted development of newborn screening programs. Worldwide incidence of classical congenital adrenal hyperplasia in this report was taken from newborn screening programs in France, Italy, Japan, New Zealand, Scotland, and the United States. Two populations in which the occurrence of congenital adrenal hyperplasia among live births has been reported with greater than usual frequency are the Yupik Eskimos of southwestern Alaska (1:282) and the people of La Reunion, France (1:2,141). Aside from these populations, 1,093,310 newborns were screened between 1980 and 1988, of whom 77 had congenital adrenal hyperplasia. Thus, worldwide incidence of this disorder was estimated at 1:14,199 live births for homozygous patients, 1:60 for heterozygous subjects, with a gene frequency of 0.0083. Incidence of congenital adrenal hyperplasia among whites was estimated to be 1:11,909 (41:488,279) for homozygous patients, 1:55 for heterozygous subjects with a gene frequency of 0.0091. Incidence for the salt-wasting form of congenital adrenal hyperplasia was 1:18,850 (58:1,093,310) compared with 1:57,543 (19:1,093,310) for congenital adrenal hyperplasia in the simple virilizing form. Thus, salt-wasting congenital adrenal hyperplasia was three times more common than simple virilizing congenital adrenal hyperplasia. Estimated incidence of congenital adrenal hyperplasia in white populations in Italy and France (1:10,866) was higher than in Scotland (1:17,098), New Zealand (1:14,500). The incidence in an Asian population (Japan) (1:15,800) did not differ significantly from that of the white population. In four of five populations, overall incidence was higher than previously reported, as was the frequency of the salt-wasting form (75% v 50% to 66%), suggesting improved case detection by newborn screening.(ABSTRACT TRUNCATED AT 250 WORDS) |
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Authors:
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S Y Pang; M A Wallace; L Hofman; H C Thuline; C Dorche; I C Lyon; R H Dobbins; S Kling; K Fujieda; S Suwa |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatrics Volume: 81 ISSN: 0031-4005 ISO Abbreviation: Pediatrics Publication Date: 1988 Jun |
Date Detail:
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Created Date: 1988-06-21 Completed Date: 1988-06-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 866-74 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, University of Illinois, College of Medicine, Chicago 60612. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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17-alpha-Hydroxyprogesterone Adrenal Hyperplasia, Congenital* / classification, epidemiology*, genetics Costs and Cost Analysis False Positive Reactions Heterozygote Homozygote Humans Hydroxyprogesterones / blood Infant, Newborn Mass Screening* National Health Programs Regional Medical Programs Steroid Hydroxylases / deficiency* World Health |
| Chemical | |
Reg. No./Substance:
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0/Hydroxyprogesterones; 68-96-2/17-alpha-Hydroxyprogesterone; EC 1.14.-/Steroid Hydroxylases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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