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

Mass Screening Committee, Japanese Society for Pediatric Endocrinology, and Japanese Society for Mass Screening; 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

doi:10.1297/cpe.24.77

Original Articles

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

Mass Screening Committee, Japanese Society for Pediatric Endocrinology, and Japanese Society for Mass Screening, 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

Author information

Mass Screening Committee, Japanese Society for Pediatric Endocrinology, and Japanese Society for Mass Screening
Tomohiro Ishii
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
Makoto Anzo
Department of Pediatrics, Kawasaki City Hospital, Kanagawa, Japan
Masanori Adachi
Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Kanagawa, Japan
Kazumichi Onigata
Shimane University Hospital Postgraduate Clinical Training Center, Shimane, Japan
Satoshi Kusuda
Maternal and Perinatal Center, Tokyo Women’s Medical University, Tokyo, Japan
Keisuke Nagasaki
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
Shohei Harada
Division of Neonatal Screening, National Center for Child Health and Development, Tokyo, Japan
Reiko Horikawa
Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan
Masanori Minagawa
Division of Endocrinology, Chiba Children’s Hospital, Chiba, Japan
Kanshi Minamitani
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
Haruo Mizuno
Departments of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
Yuji Yamakami
Kanagawa Health Service Association, Kanagawa, Japan
Masaru Fukushi
Sapporo IDL, Sapporo, Japan
Toshihiro Tajima
Department of Pediatrics, Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
Author's Organization：
Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japan

Keywords: 21-hydroxylase deficiency, mass screening, guideline

JOURNAL OPEN ACCESS

2015 Volume 24 Issue 3 Pages 77-105

DOI https://doi.org/10.1297/cpe.24.77

Details

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.

Corresponding author

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