Mass Screening Committee, Japanese Society for Pediatric Endocrinology, Japanese Society for Mass Screening, Tomohiro Ishii 1 , Makoto Anzo 2 , Masanori Adachi 3 , Kazumichi Onigata 4 , Satoshi Kusuda 5 , Keisuke Nagasaki 6 , Shohei Harada 7 , Reiko Horikawa 8 , Masanori Minagawa 9 , Kanshi Minamitani 1 , Haruo Mizuno 11 , Yuji Yamakami 12 , Masaru Fukushi 13 , Toshihiro Tajima 14
18 July 2015
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.