Sex differentiation disorders

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Congenital adrenal hyperplasia

Australia

• International Journal of Neonatal Screening
  • Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme [2020]

Austria, Germany

• Endocrine Connections
  • Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry [2021]

Brazil

• Archives of Endocrinology and Metabolism
  • Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review [2023]

• BMC Pediatrics
  • Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants [2017]

• Revista Médica de Minas Gerais
  • Management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children and adolescents: review [2022]

Canada, United States

• Archives of Sexual Behavior
  • Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey [2024]

Chile

• Journal of Clinical Medicine
  • Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program [2023]

China

• Frontiers in Endocrinology
  • Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis [2021]

Croatia

• Frontiers in Endocrinology
  • The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population [2023]

Cuba

• International Journal of Endocrinology
  • Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba [2021]

Czech Republic

• Experimental and Clinical Endocrinology & Diabetes
  • 21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form [2025]

Europe

• European Journal of Endocrinology
  • Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe [2022]

• European Molecular Genetics Quality Network
  • EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency [2020]

• Frontiers in Endocrinology
  • Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2021]

Europe, United States

• European Journal of Endocrinology
  • Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia [2021]

France

• European Journal of Endocrinology
  • Advances in congenital adrenal hyperplasia newborn screening: 11-ketotestosterone and 21-deoxycortisone as additional discriminatory biomarkers [2025]

Germany

• BMC Endocrine Disorders
  • Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany [2018]

• Geburtshilfe und Frauenheilkunde
  • Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No. 174/013, July 2015) [2015]

India

• Indian Journal of Endocrinology and Metabolism
  • Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: How relevant is it to Indian context? [2013]

• Indian Pediatrics
  • Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia [2020]
  • Management of Infants with Congenital Adrenal Hyperplasia [2020]

• International Journal of Neonatal Screening
  • CAH Newborn Screening in India: Challenges and Opportunities [2020]

• Journal of Pediatric Endocrinology and Diabetes
  • Comprehensive Overview of Congenital Adrenal Hyperplasia and its Genetic Diagnosis Among Children and Adolescents [2022]

International

• Androgen Excess and PCOS Society
  • Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women [2017]

• Clinical Endocrinology
  • The I-CAH Registry: A platform for international collaboration for improving knowledge and clinical care in congenital adrenal hyperplasia [2024]
  • Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry [2022]

• Endocrine Reviews
  • Cardiometabolic Aspects of Congenital Adrenal Hyperplasia [2025]
  • Congenital Adrenal Hyperplasia - Current Insights in Pathophysiology, Diagnostics, and Management [2022]

• European Journal of Endocrinology
  • Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure [2022]
  • International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry [2021]

• Expert Review of Endocrinology & Metabolism
  • Glucocorticoid therapy in classic congenital adrenal hyperplasia: traditional and new treatment paradigms [2025]

• Frontiers in Behavioral Neuroscience
  • Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review [2020]

• Frontiers in Endocrinology
  • Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review [2025]
  • Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis [2022]

• Hormone Research in Paediatrics
  • Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis [2023]

• Journal of Clinical Endocrinology & Metabolism
  • Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2025]
  • 17a-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases [2025]
  • Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia [2021]

• Journal of Clinical Research in Pediatric Endocrinology
  • Extensive Literature Review of 46,XX Newborns with Congenital Adrenal Hyperplasia and Severe Genital Masculinization: Should They Be Assigned and Reared Male? [2024]

• Nature Reviews Endocrinology
  • Management challenges and therapeutic advances in congenital adrenal hyperplasia [2022]

• Sexual Development
  • Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study [2021]

Ireland, United Kingdom

• Clinical Endocrinology
  • Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland [2024]

Israel

• Frontiers in Endocrinology
  • Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays [2023]

Japan

• Clinical Pediatric Endocrinology
  • Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision) [2022]
  • Neonatal mass screening for 21-hydroxylase deficiency [2016]
  • Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision) [2015]

• Endocrine Journal
  • Current and future perspectives on clinical management of classic 21-hydroxylase deficiency [2023]
  • Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists [2022]

• International Journal of Neonatal Screening
  • Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan [2021]

Lithuania

• Medicina
  • Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia [2021]

Malaysia

• Malaysian Journal of Pathology
  • Congenital adrenal hyperplasia testing in the Malaysian population: real-world data sourced from a national reference laboratory [2024]

Netherlands

• Archives of Disease in Childhood
  • 21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation [2025]

New Zealand

• International Journal of Neonatal Screening
  • Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand [2020]

Norway

• Tidsskrift for Den norske legeforening
  • Classic congenital adrenal hyperplasia [2017]

Poland

• Medical Anthropology
  • The Negotiation of Medical Treatments by Parents of Children with Congenital Adrenal Hyperplasia in Poland [2025]

Republic of Korea

• Endocrinology and Metabolism
  • Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study [2022]

• Frontiers in Endocrinology
  • Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2021]

Sweden

• International Journal of Neonatal Screening
  • Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2020]

• Journal of Clinical Endocrinology & Metabolism
  • Increased Prevalence of Accidents and Injuries in Congenital Adrenal Hyperplasia: A Population-based Cohort Study [2024]
  • Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study [2022]

• Journal of Endocrinological Investigation
  • Congenital adrenal hyperplasia in patients with adrenal tumors: a population-based case-control study [2023]

• Journal of the Endocrine Society
  • Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study [2019]

Switzerland

• Journal of Clinical Endocrinology & Metabolism
  • Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond [2022]

Thailand

• BMC Medical Genomics
  • Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis [2025]

Türkiye

• Endocrine
  • 17a Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort [2024]

• Journal of Clinical Research in Pediatric Endocrinology
  • Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence [2025]
  • The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases [2025]
  • Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency [2025]
  • Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency [2025]
  • Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns [2025]
  • Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants [2020]

United Kingdom

• European Journal of Endocrinology
  • Health status of children and young persons with congenital adrenal hyperplasia in the UK (CAH-UK): a cross-sectional multi-centre study [2022]

• UK National Screening Committee
  • Congenital adrenal hyperplasia

United States

• Endocrine Society
  • Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis [2018]
  • Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline [2018]
  • Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis [2018]
  • Congenital Adrenal Hyperplasia Guideline Resources

• Frontiers in Endocrinology
  • Optimizing glucocorticoid therapy in congenital adrenal hyperplasia and analog conditions: the intersection of dose reduction, patient care, and coverage in the US [2025]
  • Depressive and anxiety disorders and antidepressant prescriptions among insured children and young adults with congenital adrenal hyperplasia in the United States [2023]

• International Journal of Neonatal Screening
  • Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy [2020]
  • Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States [2020]
  • Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States [2020]

• International Journal of Pediatric Endocrinology
  • Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative [2010]

• Journal of Clinical Endocrinology & Metabolism
  • Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens [2025]
  • Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2025]
  • Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [2025]

• National Institute of Child Health and Human Development
  • Congenital Adrenal Hyperplasia (CAH)

• Pediatric Endocrine Society
  • Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia [2023]

• Pediatric Medicine
  • Pitfalls of prenatal and newborn screening in congenital adrenal hyperplasia: a narrative review [2023]

• Reviews in Endocrine and Metabolic Disorders
  • The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum [2023]

Western countries

• Frontiers in Endocrinology
  • Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study [2022]

WHO Eastern Mediterranean Region

• BMJ Global Health
  • Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village… [2021]

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