Clinical practice guidelines for the management of differences of sex development in Japan

Sep 30, 2026

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Differences of sex development (DSD) are congenital conditions where chromosomal, gonadal, and anatomical sex characteristics do not match typical male or female development. These clinical practice guidelines deliver evidence-based recommendations for diagnosing and managing individuals with DSD across the lifespan. A multidisciplinary committee applied a systematic literature review and the GRADE framework to judge recommendation strength and evidence quality. Topics include early infant management, diagnostic evaluation, hormone and surgical approaches, gonadal tumor risk assessment, fertility preservation, and transition from pediatric to adult care, tailored to Japan’s clinical and sociocultural context.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages49

Reading Time2 h 3 min

AccessFree to download

Highlights

Individualized multidisciplinary DSD care

Key clinical topics covered

Psychosocial care emphasis

Abstract

Key words

List of Recommendations

Initial management of newborns with atypical genitalia

CQ1: Sex assignment shortly after birth

CQ2: Rapid genetic testing before sex assignment

CQ3: Initial information for families

Clinical Pediatric Endocrinology Vol.35 / No.1 January 2026 pp 1–49 Review Clinical practice guidelines for the management of differences of sex development in Japan Tomohiro Ishii1, 2 , Kenichi Kashimada3 , Masanobu Kawai4 , Tomoyo Itonaga5 , Takeshi Iwasa6 , Akari Utsunomiya7 , Kayo Ozaki8 , Kazuhiro Kawamura9 , Junko Kanno10 , Jun Koh11 , Yoshiyuki Kojima12 , Shoko Sasaki13 , Hiroyuki Sato14 , Koji Shiraishi15 , Yasuhiro Naiki3 , Mitsuru Nishiyama16 , Takashi Hamajima17 , Yasuko Fujisawa18 , Noriko Makita19 , Katsuyuki Matsui20 , Toshihiro Yanai21 , Reiko Horikawa3 , and Tsutomu Ogata22 1Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 2Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan 4Department of Molecular Genetics and Endocrinology, Research Institute, Osaka Women’s and Children’s Hospital Research Institute, Osaka, Japan 5Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan 6Department of Obstetrics and Gynecology, Tokushima University, Tokushima, Japan 7Department of Genetic Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan 8Department of Endocrinology and Metabolism, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan 9Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan 10Department of Pediatrics, Tohoku University, Miyagi, Japan 11Health Care Center, Kansai University, Osaka, Japan 12Department of Urology, Fukushima Medical University School of Medicine, Fukushima, Japan 13Department of Psycho-Social Studies, Meiji University, Tokyo, Japan 14Department of Urology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 15Department of Urology, Yamaguchi University, Ube, Yamaguchi, Japan 16Health Care Center, Kochi University, Kochi, Japan 17Department of Endocrinology and Metabolism, Aichi Children’s Health and Medical Center, Aichi, Japan 18Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan 19Department of Nephrology and Endocrinology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan 20Division of Pediatric Endocrinology, Metabolism & Diabetes, Shiga General Hospital, Shiga, Japan 21Department of Pediatric Surgery and Pediatric Urology, Ibaraki Children’s Hospital, Ibaraki, Japan 22Department of Pediatrics, Hamamatsu Medical Center, Shizuoka, Japan Highlights ● The guidelines advocate for individualized, multidisciplinary DSD care incorporating shared decision-making across the lifespan. ● Key topics addressed include sex assignment, diagnostic evaluation, hormone therapy, surgery, tumor risk, and fertility preservation. ● With particular emphasis on psychosocial care, the guidelines aim to enhance DSD management within the context of evolving clinical evidence. Received: August 13, 2025 Accepted: October 12, 2025 Advanced Epub: December 3, 2025 Corresponding Author: Tomohiro Ishii, M.D., Ph.D., Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan E-mail: [tomishii@keio.jp](tomishii@keio.jp) This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial No Derivatives (by-nc-nd) License <[http://creativecommons.org/licenses/by-nc-nd/4.0/](http://creativecommons.org/licenses/by-nc-nd/4.0/)> . Copyright© 2026 by The Japanese Society for Pediatric Endocrinology Clin Pediatr Endocrinol 2 Abstract. 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 di

FAQs

What is the scope of these clinical practice guidelines for DSD in Japan?

They provide evidence-based recommendations for diagnosis and management of individuals with differences of sex development across the lifespan, from infancy through transition to adult care.

How were the recommendations developed and evaluated?

A multidisciplinary committee conducted a systematic review of the literature and used the GRADE system to assess the strength of recommendations and the quality of evidence.

What key topics do the guidelines address in early newborn management?

They cover initial management of newborns with atypical genitalia, including timing of sex assignment, the potential role of rapid genetic testing before sex assignment, and information that should be provided to families.

Sep 30, 2026

Uploaded by moss~