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

Authors :
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
Source :
Clinical Pediatric Endocrinology; 2022, Vol. 31 Issue 3, p116-143, 28p
Publication Year :
2022

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
09185739
Volume :
31
Issue :
3
Database :
Complementary Index
Journal :
Clinical Pediatric Endocrinology
Publication Type :
Academic Journal
Accession number :
158461276
Full Text :
https://doi.org/10.1297/cpe.2022-0009