Art

J-GLOBAL ID：200902182869801154   Reference number：01A0282610

A False Negative Case with 21-Hydroxylase Deficiency at Newborn Mass Screenning Program. Case Report and Review of the Mass Screening Program in Kagoshima Prefecture.

新生児集団スクリーニング計画における21-ヒドロキシラーゼ欠損の偽陰性症例 症例報告および鹿児島県の新生児集団スクリーニング計画のレビュー

Author (9)： HIZUKURI K (Kagoshima Univ., Kagoshima, JPN) ,  ONO S (Kagoshima Univ., Kagoshima, JPN) ,  MASUDA R (Kagoshima Univ., Kagoshima, JPN) ,  MIZOTA M (Kagoshima Univ., Kagoshima, JPN) ,  OTSUBO K (Kagoshima Univ., Kagoshima, JPN) ,  ETO S (Kagoshima Univ., Kagoshima, JPN) ,  TAMADA I (Kagoshima Univ., Kagoshima, JPN) ,  FUKAMI S (Kagoshima Univ., Kagoshima, JPN) ,  FUJIEDA K (Hokkaido Univ. School of Medicine, Sapporo, JPN)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 9  Issue： 1  Page： 25-30  Publication year： Jun. 2000 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *Neonatal Screening ,...
Semi thesaurus term： congenital adrenal hyperplasia ,...

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JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Pediatric diagnosis  (GC08030X)

Reference (9)：

• 1) Suwa S. Nationwide survey of neonatal mass screening for congenital adrenal hyperplasia in Japan. Screening3, 1994; 141-51.
• 2) Pang S, Hotchkiss J, Drash AL, Levine AS, et al. Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay: Its aplication for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977; 45: 1003-8.
• 3) Katsuhiko T, Hiroaki I, Kikumaro A, Yasuhiro K. The middle report of the cases of congenital adrenal hyperplasia who were false negative at newborn mass screening. The report of research committee on total study about child and family. 1998: 318-9.
• 4) Shinohara O. False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency. Endocrinol J 1998; 45 (3): 427-30.
• 5) Speiser PW, Dupont J, Zhu D, Serrat J, et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 92: 584-95.

Terms in the title (10)： 新生児 ,  集団 ,  スクリーニング ,  計画 ,  21-ヒドロキシラーゼ欠損 ,  偽陰性 ,  症例 ,  症例報告 ,  鹿児島 ,  レビュー