Sex differentiation disorders

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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]

Europe

• EUROCAT
  • The burden of disease for children born alive with Turner syndrome-A European cohort study [2023]

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]

High-income countries

• BMC Pregnancy and Childbirth
  • Live birth rate after oocyte donation in females diagnosed with Turner syndrome: a systematic review and meta-analysis [2024]

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 [2024]

• Frontiers in Endocrinology
  • Epidemiological analysis of Turner syndrome in children aged 0-14 years: global, regional, and national perspectives (1990-2021) [2025]
  • 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]

• Translational Psychiatry
  • Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study [2024]

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 Kingdom

• NHS England
  • Presentation: Clinical suspicion of Turner syndrome

United States

• American College of Medical Genetics and Genomics
  • Laboratory guideline for Turner syndrome [2010]

• 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]

• American Society for Reproductive Medicine
  • Maternal cardiovascular morbidity and mortality associated with pregnancy in individuals with Turner syndrome: a committee opinion [2024]

• 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
  • Turner Syndrome

• Pediatric Endocrine Society
  • Fertility Counseling Practices for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey [2022]
  • Neurodevelopmental and Mental Health Screening for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey [2020]

{Related topics}

• Topic
  • Disorders of sex development
  • Amenorrhea, premature ovarian insufficiency