Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Special Report
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
Tomohiro IshiiKenichi KashimadaNaoko AmanoKei TakasawaAkari Nakamura-UtsunomiyaShuichi YatsugaTokuo MukaiShinobu IdaMitsuhisa IsobeMasaru FukushiHiroyuki SatohKaoru YoshinoMichio OtsukiTakuyuki KatabamiToshihiro Tajima
Author information
JOURNAL OPEN ACCESS

2022 Volume 31 Issue 3 Pages 116-143

Details
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.

Content from these authors
© 2022 by The Japanese Society for Pediatric Endocrinology

この記事はクリエイティブ・コモンズ [表示 - 非営利 - 改変禁止 4.0 国際]ライセンスの下に提供されています。
https://creativecommons.org/licenses/by-nc-nd/4.0/deed.ja
Previous article Next article
feedback
Top