Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience.
dc.contributor.author | Mikami, A | en_US |
dc.contributor.author | Fukushi, M | en_US |
dc.contributor.author | Oda, H | en_US |
dc.contributor.author | Fujita, K | en_US |
dc.contributor.author | Fujieda, K | en_US |
dc.date.accessioned | 2009-05-27T15:57:32Z | |
dc.date.available | 2009-05-27T15:57:32Z | |
dc.date.issued | 1999-12-13 | en_US |
dc.description | The Southeast Asian Journal of Tropical Medicine and Public Health. | en_US |
dc.description.abstract | A screening program for congenital adrenal hyperplasia (CAH) in Sapporo began in 1982, 7 years prior to the introduction of the national program. Since its inception, testing has involved the detection of 17-hydroxyprogesterone (17-OHP) in dried blood samples, using ELISA. Up to the end of March 1998, of 298,731 newborn screened, second samples were requested in 1,723 cases (0.6%). This number included 789 newborns who weighed less than 2,000 gm at birth. A total of 14 cases were diagnosed with 21-hydroxylase deficiency (21-OHD). "Salt-wasting type (SW)" outnumbered "simple virilizing type (SV)" by 11:3. The ratio of male to female was a converse. but unrelated, 3:11. Our study from 1982-1997 revealed that the incidence of 21-OHD in Sapporo City was 1:21.338, markedly similar to the worldwide incidence of 1:15,000. In order to improve the program, other type of analysis are also currently in use and under evaluation. These include highly sensitive HPLC analysis for 17-OHP and molecular analysis to identify some mutations associated with the 21-OHD gene (CYP21). These methodologies are very useful for the confirmation of information acquired from dried blood specimens. | en_US |
dc.description.affiliation | Sapporo City Institute of Public Health, Sapporo, Japan. | en_US |
dc.identifier.citation | Mikami A, Fukushi M, Oda H, Fujita K, Fujieda K. Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience. The Southeast Asian Journal of Tropical Medicine and Public Health. 1999 ; 30 Suppl 2(): 100-2 | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/34076 | |
dc.language.iso | eng | en_US |
dc.source.uri | https://www.tm.mahidol.ac.th/seameo/publication.htm | en_US |
dc.subject.mesh | 17-alpha-Hydroxyprogesterone --blood | en_US |
dc.subject.mesh | Adrenal Hyperplasia, Congenital --diagnosis | en_US |
dc.subject.mesh | Chromatography, High Pressure Liquid | en_US |
dc.subject.mesh | Enzyme-Linked Immunosorbent Assay | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Incidence | en_US |
dc.subject.mesh | Infant, Newborn | en_US |
dc.subject.mesh | Japan --epidemiology | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Neonatal Screening | en_US |
dc.title | Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience. | en_US |
dc.type | Journal Article | en_US |
Files
License bundle
1 - 1 of 1