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. 2022;31(3):116-143.
doi: 10.1297/cpe.2022-0009. Epub 2022 Apr 10.

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

Tomohiro Ishii  1   2 , Kenichi Kashimada  1   3 , Naoko Amano  2   4   5 , Kei Takasawa  3   4 , Akari Nakamura-Utsunomiya  4   6 , Shuichi Yatsuga  4   7 , Tokuo Mukai  1   8 , Shinobu Ida  1   9 , Mitsuhisa Isobe  10   11 , Masaru Fukushi  10   12 , Hiroyuki Satoh  13   14 , Kaoru Yoshino  13   15 , Michio Otsuki  16   17 , Takuyuki Katabami  16   18 , Toshihiro Tajima  4   19
Affiliations

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

Tomohiro Ishii et al. Clin Pediatr Endocrinol. 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.

Keywords: 21-hydroxylase deficiency; congenital adrenal hyperplasia; guideline; neonatal mass screening.

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Conflict of interest statement

In accordance with the regulations related to the Conflict of Interest (COI) of the Japanese Society for Pediatric Endocrinology, none of the working committee members had COI regarding the guidelines in the past 3 years.

Figures

Fig. 1.
Fig. 1.
Steroidogenesis in 21-hydroxylase deficiency. DOC: deoxycorticosterone, 17-OHP: 17-hydroxyprogesterone, DHEA: dehydroepiandrosterone, DHEA-S: dehydroepiandrosterone sulfate, ZG: zona glomerulosa, ZF: zona fasciculata, ZR: zona reticularis.
See this image and copyright information in PMC

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