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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)77-105
Number of pages29
Journalclinical pediatric endocrinology
Volume24
Issue number3
DOIs
Publication statusPublished - 2015 Jul 18

Keywords

  • 21-hydroxylase deficiency
  • Guideline
  • Mass screening

ASJC Scopus subject areas

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

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    Ishii, T., Anzo, M., Adachi, M., Onigata, K., Kusuda, S., Nagasaki, K., Harada, S., Horikawa, R., Minagawa, M., Minamitani, K., Mizuno, H., Yamakami, Y., Fukushi, M., & Tajima, T. (2015). Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). clinical pediatric endocrinology, 24(3), 77-105. https://doi.org/10.1297/cpe.24.77