Ishii Tomohiro, Kashimada Kenichi, Amano Naoko, Takasawa Kei, Nakamura-Utsunomiya Akari, Yatsuga Shuichi, Mukai Tokuo, Ida Shinobu, Isobe Mitsuhisa, Fukushi Masaru, Satoh Hiroyuki, Yoshino Kaoru, Otsuki Michio, Katabami Takuyuki, Tajima Toshihiro
Differences of Sex Development (DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Clin Pediatr Endocrinol. 2022;31(3):116-143. doi: 10.1297/cpe.2022-0009. Epub 2022 Apr 10.
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 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.
先天性肾上腺皮质增生症是一类以肾上腺皮质类固醇生成受损为特征的疾病。先天性肾上腺皮质增生症最常见的疾病是21-羟化酶缺乏症，它由特定基因的致病变异引起，在日本的患病率为1/18000至1/20000。自1989年日本出版诊断手册以来，日本21-羟化酶缺乏症的临床指南已修订两次。工作委员会代表日本儿科学会、日本大规模筛查学会、日本泌尿外科学会和日本内分泌学会，根据与该疾病相关的最新证据和知识，更新了2014年发布的21-羟化酶缺乏症诊断和治疗指南。考虑到每位患者的风险和益处，更新指南中的建议可应用于临床实践。
