title: Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
abstract: 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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Ishii
authors.affiliation: Department of Pediatrics, Kawasaki City Hospital, Kanagawa, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Anzo
authors.affiliation: Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Adachi
authors.affiliation: Shimane University Hospital Postgraduate Clinical Training Center, Shimane, Japan.
authors.forename: Kazumichi
authors.initials: K
authors.lastname: Onigata
authors.affiliation: Maternal and Perinatal Center, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kusuda
authors.affiliation: Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Nagasaki
authors.affiliation: Division of Neonatal Screening, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Shohei
authors.initials: S
authors.lastname: Harada
authors.affiliation: Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Horikawa
authors.affiliation: Division of Endocrinology, Chiba Children's Hospital, Chiba, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Minagawa
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kanshi
authors.initials: K
authors.lastname: Minamitani
authors.affiliation: Departments of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Mizuno
authors.affiliation: Kanagawa Health Service Association, Kanagawa, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Yamakami
authors.affiliation: Sapporo IDL, Sapporo, Japan.
authors.forename: Masaru
authors.initials: M
authors.lastname: Fukushi
authors.affiliation: Department of Pediatrics, Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tajima
keywords: 21-hydroxylase deficiency; guideline; mass screening