Turner syndrome

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Information
Disease name
Turner syndrome
Disease ID
DOID:3491
Description
"A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome." [url:https\://ghr.nlm.nih.gov/condition/turner-syndrome, url:https\://rarediseases.org/rare-diseases/turner-syndrome/, url:https\://research.nhgri.nih.gov/atlas/condition/turner-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Turner-Syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT02250456 Active, not recruiting AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome) July 2013 July 2024
NCT01410045 Active, not recruiting N/A Cryopreservation of Ovarian Cortex in Girls With Turner Syndrome January 2011 February 2031
NCT03381300 Active, not recruiting N/A Preservation of Ovarian Cortex Tissue in Girls With Turner Syndrome January 1, 2018 November 1, 2071
NCT05690386 Active, not recruiting Phase 2 A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome February 15, 2023 June 2026
NCT00140998 Completed Phase 3 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome January 2001 June 2004
NCT00191113 Completed Phase 3 Somatropin Treatment to Final Height in Turner Syndrome February 1989 December 2007
NCT00234533 Completed Phase 3 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq June 2004 July 2008
NCT00256126 Completed Phase 4 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® May 31, 2005 September 30, 2007
NCT00266656 Completed Phase 4 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome December 2005 September 2015
NCT00406926 Completed Phase 3 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome August 1999 August 2003
NCT00420654 Completed N/A Growth Hormone Treatment of Women With Turner Syndrome August 2007 September 2011
NCT00443144 Completed D3-GHR Polymorphism and Turner Syndrome May 2005 May 2007
NCT00471731 Completed Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure May 7, 2007 November 13, 2014
NCT00738205 Completed Evaluation of Convenience and Compliance of the Easypod™ Electronic Self-injector June 2007 June 2009
NCT00029159 Completed Phase 3 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome November 1992 June 2012
NCT00825617 Completed N/A Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy October 1996 June 2000
NCT00837616 Completed Phase 4 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism January 2009 December 2012
NCT00877942 Completed Sex Differences in Early Brain Development; Brain Development in Turner Syndrome October 2006 May 2014
NCT00960128 Completed Observational Prospective Study on Patients Treated With Norditropin® April 1, 2006 December 31, 2016
NCT01245374 Completed Phase 4 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents November 2010 April 2011
NCT01322165 Completed National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions November 2007 September 2016
NCT01327924 Completed Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone April 2011 June 2012
NCT01367834 Completed N/A Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome May 2010 May 2014
NCT00770458 Completed Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker June 2008 December 2009
NCT00097526 Completed Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) April 2000 July 2010
NCT00097552 Completed A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone May 1997 July 2010
NCT00134745 Completed Phase 4 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome June 2005 March 2013
NCT01419249 Completed Phase 4 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study September 2011 October 2012
NCT01518036 Completed Phase 3 Use of Somatropin in Turner Syndrome September 14, 1987 April 11, 2004
NCT01518062 Completed Phase 4 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome November 1989 September 2003
NCT01543867 Completed Safety and Efficacy of Long-term Somatropin Treatment in Children January 2001 December 2011
NCT01563926 Completed Phase 3 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency October 23, 2000 October 10, 2002
NCT01604161 Completed Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner Syndrome May 2005 June 2015
NCT01678261 Completed X-chromosome Inactivation, Epigenetics and the Transcriptome September 2012 January 2016
NCT01687842 Completed Social Cognition and Turner Syndrome March 2013 March 2017
NCT01710696 Completed Phase 3 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome July 23, 1998 July 26, 2004
NCT01734486 Completed Phase 4 Growth Response in Girls With Turner Syndrome September 23, 1996 May 21, 2003
NCT01760668 Completed Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome February 2013 October 2015
NCT02160717 Completed Risk of Diabetes in Young Turner Syndrome Patients May 2014 June 2017
NCT02213484 Completed Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes July 1, 2014 July 1, 2016
NCT02787486 Completed Expanded Noninvasive Genomic Medical Assessment: The Enigma Study October 2015 September 2018
NCT03015909 Completed Phase 4 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. August 11, 2016 December 21, 2017
NCT03181230 Completed Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome May 26, 2017 December 31, 2018
NCT05346159 Completed Effects of Adrenal Androgens on Gender-typed Behavior in Girls With Turner Syndrome May 1, 2022 May 31, 2023
NCT05473091 Completed Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome? March 11, 2022 September 1, 2022
NCT05838885 Completed Phase 2 A Trial of YPEG-rhGH in Children With Short Stature February 15, 2022 December 19, 2023
NCT03836300 Enrolling by invitation N/A Parent and Infant Inter(X)Action Intervention (PIXI) November 30, 2018 June 30, 2025
NCT04252001 Not yet recruiting N/A Growing up With the Young Endocrine Support System (YESS!) December 1, 2024 December 1, 2026
NCT06325618 Recruiting Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome January 8, 2024 August 2027
NCT05849389 Recruiting Phase 2 Vosoritide for Short Stature in Turner Syndrome March 2024 September 2026
NCT03185702 Recruiting UTHealth Turner Syndrome Research Registry August 28, 2015 January 1, 2035
NCT02417740 Recruiting Natural History of Noncirrhotic Portal Hypertension July 27, 2015 September 4, 2029
NCT05740579 Recruiting N/A The Danish TURNER Cryopreservation Study January 1, 2023 January 1, 2051
NCT03440697 Recruiting Pathogenetic Basis of Aortopathy and Aortic Valve Disease December 10, 2015 December 31, 2030
NCT04189406 Recruiting Turner Syndrome Minipuberty Study February 1, 2020 December 1, 2024
NCT04463316 Recruiting GROWing Up With Rare GENEtic Syndromes October 1, 2018 January 1, 2030
NCT04798690 Recruiting Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature February 8, 2021 December 2031
NCT04803474 Recruiting Turner And Klinefelter Treatment Target Study July 1, 2018 December 1, 2024
NCT04948658 Recruiting Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy September 13, 2021 July 31, 2030
NCT01604395 Recruiting Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children January 2012 December 31, 2032
NCT05052606 Recruiting Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry May 20, 2020 October 2025
NCT06178887 Recruiting Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients With Turner Syndrome January 8, 2019 December 31, 2023
NCT05425953 Recruiting Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype June 13, 2022 May 1, 2025
NCT06202846 Recruiting N/A Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome February 28, 2024 October 2028
NCT05723835 Recruiting Phase 3 A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9 February 1, 2023 June 21, 2027
NCT00419107 Terminated Beta Cell Function in Women With Turner Syndrome November 2004 January 2007
NCT02226315 Terminated Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies August 2014 September 2015
NCT00121875 Terminated Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature June 2005 December 2008
NCT03812913 Unknown status Neuropsychological Assessment of Children and Adolescents With Turner Syndrome February 2019 November 2021
NCT03189160 Unknown status Phase 2 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome March 2016
NCT00625001 Unknown status Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome November 1994 June 2010
NCT01668251 Unknown status Turner Syndrome Prenatal Diagnosis Study January 2006 January 2017
NCT02430584 Unknown status Whole Blood Specimen Collection From Pregnant Subjects March 2015 May 2021
NCT05223621 Unknown status Sexuality and Sexual Quality of Life in Adult Patients With Turner Syndrome (TS) Compared With Patients With Primary Ovarian Insufficiency Different From TS February 2022 May 2022
NCT01678274 Unknown status Prospective Characterization of the Heart, Aorta and Blood Pressure in Turner Syndrome. Association With Aortic Dissection. December 2013 October 2016
NCT00624949 Unknown status Aortic Dimensions in Turner Syndrome August 2003 June 2012
NCT03459651 Withdrawn N/A Effect of Turner Syndrome on Number Sense April 1, 2022 April 2, 2022
Exact Synonym (Disease Ontology)
Bonnevie-Ullrich syndrome
Exact Synonym (Disease Ontology)
Gonadal dysgenesis - Turner
Exact Synonym (Disease Ontology)
Karyotype 45, X
Exact Synonym (Disease Ontology)
Monosomy X
Exact Synonym (Disease Ontology)
monosomy X syndrome
Exact Synonym (Disease Ontology)
XO syndrome
Disase is a (Disease Ontology)
DOID:14447
Cross Reference ID (Disease Ontology)
GARD:2540
Cross Reference ID (Disease Ontology)
GARD:7831
Cross Reference ID (Disease Ontology)
ICD10CM:Q96
Cross Reference ID (Disease Ontology)
MESH:D014424
Cross Reference ID (Disease Ontology)
NCI:C26900
Cross Reference ID (Disease Ontology)
NCI:C34434
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:38804009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0041408
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1527168
OrphaNumber from OrphaNet (Orphanet)
881
MedGen unique identifier (MedGen Concept name)
21734
MedGen concept unique identifier (MedGen Concept name)
C0041408
ICD10 class code (Insert disease from ICD10)
Q96
ICD10 preferred id (Insert disease from ICD10)
D0014203
MeSH unique ID (MeSH (Medical Subject Headings))
D014424