Clinical practice guidelines for the management of differences of sex development in Japan
Differences of sex development (DSD) are congenital conditions in which chromosomal, gonadal, and anatomical sex characteristics are discordant with typical male or female development. These clinical practice guidelines provide evidence-based recommendations for the diagnosis and management of individuals with DSD across the lifespan. The guidelines were developed by a multidisciplinary committee of specialists representing pediatric endocrinology, adult endocrinology, urology, gynecology, psychiatry, and psychology. The committee employed a systematic review of the literature and used the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to assess the strength of recommendations and the quality of evidence. Key areas addressed include the initial management of infants with atypical genitalia, diagnostic approaches, hormonal treatment, surgical interventions, gonadal tumor risk assessment, fertility preservation, and the transition from pediatric to adult care. The guidelines integrate international best practices with Japan's unique sociocultural, healthcare, and legal contexts for optimal DSD management and aim to improve clinical care for individuals with DSD while acknowledging the limited high-quality evidence in many aspects of DSD management.
Authors
- Reiko Horikawa (ORCID: https://orcid.org/0000-0003-3429-3246)
- Akari Nakamura‐Utsunomiya (ORCID: https://orcid.org/0000-0002-7417-8923)
- Tsutomu Ogata (ORCID: https://orcid.org/0000-0001-7178-9991)
- Koji Shiraishi (ORCID: https://orcid.org/0000-0002-3278-7747)
- Takeshi Iwasa (ORCID: https://orcid.org/0000-0003-1014-5687)
- Mitsuru Nishiyama (ORCID: https://orcid.org/0000-0003-4417-7476)
- Yasuhiro Naiki (ORCID: https://orcid.org/0000-0002-6338-895X)
- Masanobu Kawai (ORCID: https://orcid.org/0000-0003-4466-1559)
- Hiroyuki Sato (ORCID: https://orcid.org/0000-0003-1399-8140)
- Takashi Hamajima (ORCID: https://orcid.org/0000-0003-0635-9009)
- Tomohiro Ishii (ORCID: https://orcid.org/0000-0001-7360-2465)
- Yasuko Fujisawa (ORCID: https://orcid.org/0000-0002-6560-4214)
- Toshihiro Yanai
- Shoko Sasaki
- Kayo Ozaki (ORCID: https://orcid.org/0000-0002-0938-8967)
- Tomoyo Itonaga (ORCID: https://orcid.org/0000-0003-4894-5356)
- J. Koh (ORCID: https://orcid.org/0009-0002-8318-808X)
- Kazuhiro Kawamura (ORCID: https://orcid.org/0000-0001-5572-9171)
- Kenichi Kashimada (ORCID: https://orcid.org/0000-0003-2505-5932)
- Noriko Makita (ORCID: https://orcid.org/0000-0002-5722-115X)
- Junko Kanno (ORCID: https://orcid.org/0009-0003-9026-4244)
- Yoshiyuki Kojima (ORCID: https://orcid.org/0000-0001-8000-0868)
- Katsuyuki Matsui (ORCID: https://orcid.org/0000-0002-3350-8316)
Institutions
- Hiroshima University (JP)
- Meiji Gakuin University (JP)
- Fukushima Medical University (JP)
- Aichi Medical University (JP)
- Meiji University (JP)
- Yamaguchi University (JP)
- Oita University (JP)
- Tohoku University (JP)
- University of Kochi (JP)
- Keio University (JP)
- Hamamatsu University School of Medicine (JP)
- Juntendo University (JP)
- Osaka Women's and Children's Hospital (JP)
- University of Tokyo Hospital (JP)
- Kobe Children's Hospital (JP)
- National Center For Child Health and Development (JP)
- Tokyo Metropolitan Children's Medical Center (JP)
- Ibaraki Children's Hospital (JP)
- Shiga Medical Center (JP)
- Hamamatsu Medical Center (JP)
- Kansai University (JP)
- The University of Tokyo (JP)
- Kōchi University (JP)
- Tokushima University (JP)
Publication Details
- Journal
- Endocrine Journal
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1507/endocrj.ej25-0392
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Societies for Pediatric Urology
- Ministry of Health, Labour and Welfare
- Nagoya City University