Sex differentiation disorders

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Disorders of sex development

Australia

• Australian Journal of General Practice
  • A guide to differences/disorders of sex development/intersex in children and adolescents [2020]

Belgium, Netherlands

• Journal of Medical Genetics
  • Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development [2020]

Brazil

• Frontiers in Pediatrics
  • Controversies on Timing of Sex Assignment and Surgery in Individuals With Disorders of Sex Development: A Perspective [2019]

Canada

• Canadian Urological Association Journal
  • Pediatric Urologists of Canada (PUC) 2021 position statement: Differences of sex development (AKA disorders of sex development) [2021]

Canada, United States

• Archives of Sexual Behavior
  • Recommendations for 46,XY Disorders/Differences of Sex Development Across Two Decades: Insights from North American Pediatric Endocrinologists and Urologists [2024]

China

• Medicine
  • Evaluating and predicting Klinefelter and Turner syndrome burden in China from 1990 to 2021: A study based on the global burden of disease database [2025]

Denmark

• Genetics in Medicine
  • The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study [2022]

• Orphanet Journal of Rare Diseases
  • Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study [2019]

Europe

• Best Practice & Research Clinical Endocrinology & Metabolism
  • Care quality improvement in differences of sex development [2025]

• Endocrine
  • Assessing the health-related management of people with differences of sex development [2021]

• European Journal of Endocrinology
  • Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’ [2018]
  • Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’ [2017]

• European Society of Paediatric Radiology
  • ESPR Uroradiology Taskforce—imaging recommendations in paediatric uroradiology, part VIII: retrograde urethrography, imaging disorder of sexual development and imaging childhood testicular torsion [2015]

• Nature Reviews Endocrinology
  • Caring for individuals with a difference of sex development (DSD): a Consensus Statement [2018]

• Psychosomatic Medicine
  • Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries [2019]

Europe, United States

• Archives of Disease in Childhood
  • Consensus statement on management of intersex disorders [2006]

• Best Practice & Research Clinical Endocrinology & Metabolism
  • The options for delayed surgery - Is there evidence available for delayed genitoplasty in differences/disorders of sex development? [2025]
  • Hormone replacement in disorders of sex development, and long-term effects [2025]

France

• Archives de Pédiatrie
  • Paradigm shift in France in the medical care of children with genital development variations: Medical care for children with genital development variations in France [2024]

• Comité consultatif national d'éthique pour les sciences de la vie et de la santé
  • Avis 132 - Ethical questions raised by the situation of people with differences of sex development [2019]

Germany

• Endocrine Connections
  • Satisfaction with health care among people with differences of sex development (DSD) in Germany [2025]

• Journal of Clinical Medicine
  • Diagnosis of DSD in Children-Development of New Tools for a Structured Diagnostic and Information Management Program within the Empower-DSD Study [2022]

• Orphanet Journal of Rare Diseases
  • Quality of care for people with differences of sex development (DSD) in Germany [2024]

International

• Best Practice & Research Clinical Endocrinology & Metabolism
  • The epidemiology of disorders of sex development [2025]
  • Gonadectomy in individuals with a difference of sex development - For whom, when, why, and why not? [2025]

• BMJ Paediatrics Open
  • Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [2017]

• Endocrine Reviews
  • Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life [2019]

• Genome Biology
  • Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [2016]

• International Journal of Molecular Sciences
  • The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development [2019]

• International Journal of Pediatric Endocrinology
  • Key discussions from the Working Party on Disorders of Sex Development (DSD) evaluation, Foundation Merieux, Annecy, France, March 14-17, 2012 [2013]

• Journal of Pediatric Psychology
  • Introduction to the Special Section: Disorders of Sex Development [2017]

• Orphanet Journal of Rare Diseases
  • Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update [2020]
  • An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [2017]

New Zealand

• Starship
  • Differences of sex development - Atawhai Taihemahema

Spain

• Anales de Pediatría (English Edition)
  • Management guidelines for disorders/different sex development (DSD) [2018]

Switzerland

• medRxiv
  • Prevalence of differences of sex development in children and adolescents in Switzerland from 2000-2019 [2024]

• National Advisory Commission on Biomedical Ethics
  • On the management of differences of sex development [2012]

• Swiss Academy of Medical Sciences
  • Opinion of the Central Ethics Committee of the SAMS on «differences of sex development» [2016]

United Kingdom

• British Society for Paediatric Endocrinology and Diabetes
  • Clinical Standards for Management of an Infant or Adolescent presenting with suspected differences of sex development (DSD) [2017]

• Medical Law International
  • Management of ‘disorders of sex development’/intersex variations in children: Results from a freedom of information exercise [2021]

• Right Decisions
  • Management of Atypical Genitalia & Suspected DSD in the Neonate
  • Disorder of Sex Development (DSD) Assessment of a neonate

• Sexual Development
  • A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in Scotland [2022]

• Society for Endocrinology
  • Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021) [2021]
  • Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) [2016]

United States

• AMA Journal of Ethics
  • A Call to Update Standard of Care for Children With Differences in Sex Development [2021]

• American Journal of Medical Genetics Part C: Seminars in Medical Genetics
  • Disorders of Sex Development (DSD): Clinical Service Delivery in the United States [2017]

• BMJ Open
  • Cohort profile: pathways to care among people with disorders of sex development (DSD) [2022]

• Current Opinion in Pediatrics
  • Prenatal and postnatal evaluation of differences of sex development: a user's guide for clinicians and families [2024]

• Frontiers in Endocrinology
  • Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States [2023]

• Frontiers in Pediatrics
  • Navigating Surgical Decision Making in Disorders of Sex Development (DSD) [2018]

• Global Public Health
  • Intersex care in the United States and international standards of human rights [2021]

• International Journal of Pediatric Endocrinology
  • Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team [2010]

• Journal of Pediatric and Adolescent Gynecology
  • A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome [2019]

• PLoS ONE
  • A national study on the physical and mental health of intersex adults in the U.S. [2020]

• Seminars in Pediatric Surgery
  • Development of a Decision Support Tool in Pediatric Differences/Disorders of Sex Development [2019]
  • Clinical Management in Mixed Gonadal Dysgenesis with Chromosomal Mosaicism: Considerations in Newborns and Adolescents [2019]

{Related topics}

• Topic
  • Turner syndrome
  • Klinefelter syndrome
  • Congenital adrenal hyperplasia