Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Original Articles
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)
Mass Screening Committee, Japanese Society for Pediatric Endocrinology, and Japanese Society for Mass ScreeningTomohiro IshiiMakoto AnzoMasanori AdachiKazumichi OnigataSatoshi KusudaKeisuke NagasakiShohei HaradaReiko HorikawaMasanori MinagawaKanshi MinamitaniHaruo MizunoYuji YamakamiMasaru FukushiToshihiro Tajima
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2015 Volume 24 Issue 3 Pages 77-105


Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The “Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.

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© 2015 by The Japanese Society for Pediatric Endocrinology

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