Sex differentiation disorders

Guidelines, reviews, epidemiology

Congenital adrenal hyperplasia

• Australia
  • Better Safer Care
    • Congenital adrenal hyperplasia (CAH) in neonates
  • 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]
• 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]
• 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, North America
  • Frontiers in Endocrinology
    • Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study [2022]
• Europe, United States
  • European Journal of Endocrinology
    • Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia [2021]
• Germany
  • BMC Endocrine Disorders
    • Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany [2018]
• 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]
• 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
    • Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry [2022]
  • Endocrine Reviews
    • 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]
  • Frontiers in Behavioral Neuroscience
    • Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review [2020]
  • Frontiers in Endocrinology
    • 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
    • Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia [2021]
  • 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]
• Israel
  • Frontiers in Endocrinology
    • Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays [2023]
• Japan
  • Clinical Pediatric Endocrinology
    • 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]
• 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]
• 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]
• Turkey
  • Journal of Clinical Research in Pediatric Endocrinology
    • 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
    • Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline [2018]
  • Frontiers in Endocrinology
    • 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]
  • Reviews in Endocrine and Metabolic Disorders
    • The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum [2023]
• 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]
• {Related topics}
  • Topic
    • Hirsutism
    • Disorders of sex development

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]
• 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
  • 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]
• International
  • BMJ Paediatrics Open
    • Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [2017]
  • European Journal of Endocrinology
    • Gonadectomy in conditions affecting sex development: a registry-based cohort study [2021]
  • 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 [2020]
• United Kingdom
  • GG&C Paediatric Guidelines
    • Disorders of Sex Development (DSD): Management of Atypical Genitalia & Suspected DSD in the 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 an infant or an adolescent with a suspected disorder of sex development (Revised 2015) [2015]
• 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]
  • Endocrinology Metabolism Clinics of North America
    • Genetics of Disorders of Sex Development: The DSD-TRN Experience [2017]
  • 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

Klinefelter syndrome

• Australia
  • Australian Family Physician
    • Klinefelter syndrome: a general practice perspective [2014]
  • Healthy Male
    • Klinefelter Syndrome [2020]
• Australia, Europe
  • European Journal of Endocrinology
    • Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review [2022]
• China
  • Journal of Assisted Reproduction and Genetics
    • ART strategies in Klinefelter syndrome [2020]
• Denmark
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
    • Morbidity in Klinefelter syndrome and the effect of testosterone treatment [2020]
  • Endocrine Connections
    • Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk [2020]
• Europe
  • Endocrine Connections
    • Quality of life in men with Klinefelter syndrome: a multicentre study [2023]
  • European Academy of Andrology
    • European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology [2021]
• International
  • Endocrine Connections
    • New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY [2023]
• Italy
  • Journal of Endocrinological Investigation
    • First baseline data of the Klinefelter ItaliaN Group (KING) cohort: clinical features of adult with Klinefelter syndrome in Italy [2022]
• Republic of Korea
  • Endocrinology and Metabolism
    • Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry [2016]
• United Kingdom
  • Genetics in Medicine
    • Detection and characterization of male sex chromosome abnormalities in the UK Biobank study [2022]
• United States
  • Advances in Pediatrics
    • Advances in the interdisciplinary care of children with Klinefelter syndrome [2016]
  • Application of Clinical Genetics
    • Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome) [2019]
  • Journal of Clinical Endocrinology & Metabolism
    • Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study [2022]
• {Related topics}
  • Topic
    • Male infertility
    • Disorders of sex development

Turner syndrome

• Canada
  • Canadian Agency for Drugs and Technologies in Health
    • Somatropin for Turner Syndrome [2023]
    • Somatropin (Genotropin) for Subcutaneous Injection: The Treatment of Short Stature Associated with Turner Syndrome in Patients Whose Epiphyses are not Closed [2014]
• Denmark
  • European Journal of Human Genetics
    • Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study [2022]
• France
  • BMC Health Services Research
    • Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France [2019]
  • HAL
    • Pregnancies and obstetrical prognosis after oocyte donation in Turner Syndrome: A multicentric study [2019]
  • Orphanet Journal of Rare Diseases
    • Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) [2022]
• Germany
  • Applied Health Economics and Health Policy
    • Implications of a Data-Driven Approach to Treatment with Growth Hormone in Children with Growth Hormone Deficiency and Turner Syndrome [2013]
  • Endocrine Connections
    • Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany [2019]
    • Care of adult women with Turner syndrome: the state of affairs in Germany [2019]
• India
  • Indian Journal of Endocrinology and Metabolism
    • Turner Syndrome Growth Charts: A Western India Experience [2020]
• International
  • American Journal of Medical Genetics Part A
    • Turner syndrome in Diverse Populations [2020]
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
    • Cardiometabolic Health in Turner Syndrome [2019]
  • Archives of Sexual Behavior
    • Depression in Turner Syndrome: A Systematic Review [2020]
  • BioMed Research International
    • Growth Curves for Girls with Turner Syndrome [2014]
  • European Journal of Endocrinology
    • Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting [2017]
  • Frontiers in Endocrinology
    • Growth in girls with Turner syndrome [2023]
    • Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome [2018]
  • Hormone Research in Paediatrics
    • Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype [2019]
  • Human Reproduction
    • International consensus: ovarian tissue cryopreservation in young Turner syndrome patients: outcomes of an ethical Delphi study including 55 experts from 16 different countries [2020]
  • Journal of Clinical Endocrinology & Metabolism
    • Early GH Treatment Is Effective and Well Tolerated in Children With Turner Syndrome: NordiNet® IOS and Answer Program [2023]
  • Therapeutic Advances in Endocrinology and Metabolism
    • Current best practice in the management of Turner syndrome [2018]
• Japan
  • Clinical Pediatric Endocrinology
    • Perspectives on growth promoting treatment for patients with Turner syndrome in Japan [2020]
    • Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan [2015]
  • Frontiers in Endocrinology
    • Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy [2023]
• Netherlands
  • Hormone Research in Paediatrics
    • The Decision-Making Process regarding Ovarian Tissue Cryopreservation in Girls with Turner Syndrome by Patients, Parents, and Healthcare Providers: A Mixed-Methods Study [2022]
  • Journal of Clinical Medicine
    • Reproductive Outcomes of Women with Turner Syndrome Undergoing Oocyte Vitrification: A Retrospective Multicenter Cohort Study [2023]
• Republic of Korea
  • Yonsei Medical Journal
    • Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data [2022]
• Sweden
  • Acta Obstetricia et Gynecologica Scandinavica
    • The complexity of fertility preservation for women with Turner syndrome and the potential risks of pregnancy and cardiovascular complications [2020]
  • Frontiers in Endocrinology
    • Normalization of puberty and adult height in girls with Turner syndrome: results of the Swedish Growth Hormone trials initiating transition into adulthood [2023]
  • Journal of Clinical Endocrinology & Metabolism
    • Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study [2024]
  • Journal of Neurodevelopmental Disorders
    • Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study [2021]
• Switzerland
  • Acta Paediatrica
    • Health behaviour of women with Turner Syndrome [2021]
• Turkey
  • Journal of Clinical Research in Pediatric Endocrinology
    • A Synopsis of Current Practice in the Diagnosis and Management of Patients with Turner Syndrome in Turkey: A Survey of 18 Pediatric Endocrinology Centers [2018]
    • Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group [2015]
• United States
  • American College of Medical Genetics and Genomics
    • Laboratory guideline for Turner syndrome [2010]
  • American College of Physicians
    • Turner Syndrome [2016]
  • American Heart Association
    • Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association [2018]
  • American Journal of Medical Genetics Part A
    • Proceedings From the Turner Resource Network Symposium: The Crossroads of Health Care Research and Health Care Delivery [2015]
  • Endocrine Society
    • Turner Syndrome
  • Journal of Pediatric and Adolescent Gynecology
    • Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines [2016]
  • National Birth Defects Prevention Network
    • Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network [2023]
  • National Institute of Child Health and Human Development
    • Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group [2007]
  • Pediatric Endocrine Society
    • Fertility Counseling Practices for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey [2022]
• {Related topics}
  • Topic
    • Disorders of sex development
    • Amenorrhea