{"title":"鉴定导致先天性肾上腺增生的酶缺乏。","authors":"J Sólyom","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.</p>","PeriodicalId":6943,"journal":{"name":"Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma","volume":"66 3-4","pages":"99-104"},"PeriodicalIF":0.0000,"publicationDate":"1995-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia.\",\"authors\":\"J Sólyom\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.</p>\",\"PeriodicalId\":6943,\"journal\":{\"name\":\"Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma\",\"volume\":\"66 3-4\",\"pages\":\"99-104\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1995-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia.
Selective screening for congenital adrenal hyperplasia (CAH) by blood spot 17-hydroxyprogesterone measurements is a practical option than can yield valuable clinical information and more accurate estimate of incidence. Simultaneous investigation of serum and urinary steroids allows detection of late-onset types of CAH.
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