Klinefelter syndrome
Information
- Disease name
- Klinefelter syndrome
- Disease ID
- DOID:1921
- Description
- "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men." [url:https\://ghr.nlm.nih.gov/condition/klinefelter-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Klinefelter-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 |
|---|---|---|---|---|---|
| NCT03325647 | Completed | Phase 4 | TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY | November 6, 2017 | May 5, 2021 |
| NCT00348946 | Completed | Phase 2 | Androgen Effect on Klinefelter Syndrome Motor Outcome | July 2006 | November 30, 2017 |
| NCT00523835 | Completed | Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome | April 2002 | November 2004 | |
| NCT00896272 | Completed | Adaptation Among Adolescents and Adults With Klinefelter Syndrome | May 5, 2009 | January 13, 2015 | |
| NCT00999310 | Completed | Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome | November 2009 | June 2013 | |
| NCT01206270 | Completed | Phase 2/Phase 3 | Androgen for Leydig Cell Proliferation | June 2009 | June 2018 |
| NCT01585831 | Completed | N/A | Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome | March 2012 | October 2017 |
| NCT01678261 | Completed | X-chromosome Inactivation, Epigenetics and the Transcriptome | September 2012 | January 2016 | |
| NCT01690013 | Completed | Life Quality and Health in Patients With Klinefelter Syndrome | September 2012 | July 2014 | |
| NCT01750632 | Completed | N/A | Subcapsular Orchiectomy in Men With Klinefelter Syndrome | August 2010 | December 2014 |
| NCT01817296 | Completed | N/A | Klinefelter Fertility Preservation | March 2013 | |
| NCT01918280 | Completed | N/A | Fertility Preservation in Cases of Klinefelter Syndrome. | September 20, 2010 | September 17, 2018 |
| NCT02408445 | Completed | Phase 4 | Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment | May 8, 2015 | January 1, 2020 |
| NCT02414295 | Completed | N/A | Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection | August 2013 | August 2014 |
| NCT05581147 | Completed | Thyroid Function and Structure IN Klinefelter Syndrome | May 11, 2007 | October 1, 2022 | |
| NCT05014997 | Completed | TyG Index Levels in Klinefelter Syndrome | February 10, 2013 | March 1, 2017 | |
| NCT02526628 | Completed | Thrombosis and Neurocognition in Klinefelter Syndrome | September 2015 | August 21, 2019 | |
| NCT02723305 | Completed | Cardiometabolic Profiles of Boys With Klinefelter Syndrome | May 2016 | December 2017 | |
| NCT02787486 | Completed | Expanded Noninvasive Genomic Medical Assessment: The Enigma Study | October 2015 | September 2018 | |
| NCT02788136 | Completed | N/A | Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome | February 2012 | July 2014 |
| NCT03836300 | Enrolling by invitation | N/A | Parent and Infant Inter(X)Action Intervention (PIXI) | November 30, 2018 | June 30, 2025 |
| NCT06294990 | Not yet recruiting | N/A | Klinefelter Syndrome and Testosterone Treatment in Puberty | April 1, 2024 | December 31, 2029 |
| NCT04252001 | Not yet recruiting | N/A | Growing up With the Young Endocrine Support System (YESS!) | December 1, 2024 | December 1, 2026 |
| NCT03396562 | Recruiting | The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy | September 29, 2017 | March 1, 2028 | |
| NCT04803474 | Recruiting | Turner And Klinefelter Treatment Target Study | July 1, 2018 | December 1, 2024 | |
| NCT05498090 | Recruiting | Phase 4 | Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males With Klinefelter Syndrome | November 3, 2022 | August 30, 2025 |
| NCT05586802 | Recruiting | Phase 3 | Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome | March 21, 2023 | April 1, 2026 |
| NCT05997706 | Recruiting | N/A | Unraveling the Klinefelter's Disease Physiopathology | June 12, 2018 | April 1, 2025 |
| NCT05425953 | Recruiting | Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype | June 13, 2022 | May 1, 2025 | |
| NCT02461303 | Terminated | Fertility Assessment in Patients With Klinefelter Syndrome | January 7, 2016 | December 12, 2017 | |
| NCT02430584 | Unknown status | Whole Blood Specimen Collection From Pregnant Subjects | March 2015 | May 2021 | |
| NCT00347464 | Withdrawn | Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome | June 2006 | August 2008 |
- Disase is a (Disease Ontology)
- DOID:0060429
- Cross Reference ID (Disease Ontology)
- GARD:8705
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q98.0
- Cross Reference ID (Disease Ontology)
- ICD9CM:758.7
- Cross Reference ID (Disease Ontology)
- MESH:D007713
- Cross Reference ID (Disease Ontology)
- NCI:C34752
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:405770005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0022735
- Exact Synonym (Disease Ontology)
- 47, XXY
- Exact Synonym (Disease Ontology)
- Hypogonadotropic Hypogonadism
- Exact Synonym (Disease Ontology)
- Klinefelter's syndrome
- Exact Synonym (Disease Ontology)
- XXY syndrome
- Exact Synonym (Disease Ontology)
- XXY trisomy
- MeSH unique ID (MeSH (Medical Subject Headings))
- D007713