Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

Tomohiro Ishii, Makoto Anzo, Masanori Adachi, Kazumichi Onigata, Satoshi Kusuda, Keisuke Nagasaki, Shohei Harada, Reiko Horikawa, Masanori Minagawa, Kanshi Minamitani, Haruo Mizuno, Yuji Yamakami, Masaru Fukushi, Toshihiro Tajima

研究成果: Article査読

16 被引用数 (Scopus)


Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The “Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.

ジャーナルClinical Pediatric Endocrinology
出版ステータスPublished - 18-07-2015

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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