Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

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• 作者：Cristiane Kopacek ; Simone Martins de Castro ; Mayara Jorgens Prado…
• 关键词：Congenital adrenal hyperplasia ; Incidence ; Neonatal screening ; Mass screening ; 21 ; amino ; 17 ; hydroxyprogesterone
• 刊名：BMC Pediatrics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：17
• 期：1
• 全文大小：597KB
• 刊物主题：Pediatrics; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2431
• 卷排序：17

文摘

BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil.