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

  • Ishii Tomohiro
    Differences of Sex Development (DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
  • Kashimada Kenichi
    Differences of Sex Development (DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan
  • Amano Naoko
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Committee on Mass Screening, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Saitama City Hospital, Saitama, Japan
  • Takasawa Kei
    Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan Committee on Mass Screening, Japanese Society for Pediatric Endocrinology
  • Nakamura-Utsunomiya Akari
    Committee on Mass Screening, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan
  • Yatsuga Shuichi
    Committee on Mass Screening, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Fukuoka University School of Medicine, Fukuoka, Japan
  • Mukai Tokuo
    Differences of Sex Development (DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Asahikawa Red Cross Hospital, Asahikawa, Japan
  • Ida Shinobu
    Differences of Sex Development (DSD) and Adrenal Disorders Committee, Japanese Society for Pediatric Endocrinology Department of Gastroenterology and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan
  • Isobe Mitsuhisa
    Japanese Society for Neonatal Screening Saitama City Institute of Health Science and Research, Saitama, Japan
  • Fukushi Masaru
    Japanese Society for Neonatal Screening Sapporo Immuno Diagnostic Laboratory (IDL), Sapporo, Japan
  • Satoh Hiroyuki
    Japanese Society for Pediatric Urology Division of Urology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
  • Yoshino Kaoru
    Japanese Society for Pediatric Urology Department of Urology, Aichi Children’s Health and Medical Center, Obu, Japan
  • Otsuki Michio
    Japan Endocrine Society Department of Endocrinology, Tokyo Women’s Medical University, Tokyo, Japan
  • Katabami Takuyuki
    Japan Endocrine Society Division of Metabolism and Endocrinology, Department of Internal Medicine, St. Marianna University School, Yokohama Seibu Hospital, Yokohama, Japan
  • Tajima Toshihiro
    Committee on Mass Screening, Japanese Society for Pediatric Endocrinology Department of Pediatrics, Jichi Medical University Tochigi Children’s Medical Center, Tochigi, Japan

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<p>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.</p>

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