Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Tomohiro Ishii, Kenichi Kashimada, Naoko Amano, Kei Takasawa, Akari Nakamura-Utsunomiya, Shuichi Yatsuga, Tokuo Mukai, Shinobu Ida, Mitsuhisa Isobe, Masaru Fukushi, Hiroyuki Satoh, Kaoru Yoshino, Michio Otsuki, Takuyuki Katabami, Toshihiro Tajima

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of CAY21A2 and is prevalent between 1 in 18,000 and 20,000 in Japan. The clinical guidelines for 21-hydroxylase deficiency in Japan have been revised twice since a diagnostic handbook in Japan was published in 1989. On behalf of the Japanese Society for Pediatric Endocrinology, the Japanese Society for Mass Screening, the Japanese Society for Urology, and the Japan Endocrine Society, the working committee updated the guidelines for the diagnosis and treatment of 21-hydroxylase deficiency published in 2014, based on recent evidence and knowledge related to this disorder. The recommendations in the updated guidelines can be applied in clinical practice considering the risks and benefits to each patient.

Original languageEnglish
Pages (from-to)116-143
Number of pages28
Journalclinical pediatric endocrinology
Volume31
Issue number3
DOIs
Publication statusPublished - 2022 Jul

Keywords

  • 21-hydroxylase deficiency
  • congenital adrenal hyperplasia
  • guideline
  • neonatal mass screening

ASJC Scopus subject areas

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

Fingerprint

Dive into the research topics of 'Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)'. Together they form a unique fingerprint.

Cite this