TY - JOUR
T1 - Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
AU - Ishii, Tomohiro
AU - Kashimada, Kenichi
AU - Amano, Naoko
AU - Takasawa, Kei
AU - Nakamura-Utsunomiya, Akari
AU - Yatsuga, Shuichi
AU - Mukai, Tokuo
AU - Ida, Shinobu
AU - Isobe, Mitsuhisa
AU - Fukushi, Masaru
AU - Satoh, Hiroyuki
AU - Yoshino, Kaoru
AU - Otsuki, Michio
AU - Katabami, Takuyuki
AU - Tajima, Toshihiro
N1 - Publisher Copyright:
© 2022 by The Japanese Society for Pediatric Endocrinology.
PY - 2022/7
Y1 - 2022/7
N2 - 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.
AB - 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.
KW - 21-hydroxylase deficiency
KW - congenital adrenal hyperplasia
KW - guideline
KW - neonatal mass screening
UR - http://www.scopus.com/inward/record.url?scp=85133650233&partnerID=8YFLogxK
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U2 - 10.1297/cpe.2022-0009
DO - 10.1297/cpe.2022-0009
M3 - Article
AN - SCOPUS:85133650233
VL - 31
SP - 116
EP - 143
JO - Clinical Pediatric Endocrinology
JF - Clinical Pediatric Endocrinology
SN - 0918-5739
IS - 3
ER -
