[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"klinefelter-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:klinefelter-syndrome":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,49,81,108,163],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100484343","phase-3-sex-steroids-balance-for-metabolic-and-reproductive-health-in-klinefelter-syndrome-100484343",false,"NCT05586802","Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome","Dissecting the Importance of Sex Steroids Balance for Metabolic and Reproductive Health in Men With Klinefelter Syndrome: a Randomized Controlled Study","KLIN-HEALTH","Inclusion Criteria:\n\n-Diagnosis of Klinefelter syndrome (47,XXY or mosaicism)\n\nDesign 1:\n\n* Age range: 16-40 years old\n* Intention to become parent or interest in fertility preservation\n* Confirmed azoospermia (lack of spermatozoids) after centrifugation of one semen sample\n\nDesign 2:\n\n* Age range: 18-65 years old\n* No interest in fertility or fertility preservation\n* Hypogonadism at diagnosis or after wash-out of testosterone replacement therapy\n* High metabolic risk defined as overweight (BMI 25-28 kg\u002Fm2) and insulin resistance (HOMA-IR \\> 2.6)\n\nExclusion Criteria:\n\n* Contraindications to testosterone-rising therapies (prostate or breast cancer, PSA \\> 4 µg\u002Fl, active liver disease, symptomatic heart disease)\n* Decreased life expectancy due to terminal disease\n* Known or suspected non-compliance, drug or alcohol abuse\n* Inability to follow the procedures of the study (language problems, severe psychological or mental disorders)","MALE","16 Years","65 Years",{"count":21,"type":22},150,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","The study seeks primarily to determine whether modulation of systemic and testicular sex steroids balance by aromatase inhibitors will positively affect the metabolic health and spermatogenesis of men with Klinefelter syndrome (KFS) as compared to the current state of the art for each issue.\n\nSecondary objectives of this study are (i) to unravel the heterogeneity of the reproductive and metabolic phenotype of men with KFS by performing a multi-omic analysis in a large cohort at baseline; (ii) to evaluate the efficacy of semaglutide-induced weight loss to achieve metabolic and reproductive benefit in men with Klinefelter syndrome as compared to standard testosterone replacement; (ii) to assess whether addition of hCG to aromatase inhibitors further increases intratesticular testosterone and promotes spermatogenesis in men with KFS.",[28],"Klinefelter Syndrome",[30,31,32,33,34,35],"Metabolic syndrome","Infertility","Aromatase","Testosterone\u002Festradiol ratio","mTESE biopsy","GLP1 agonists","RECRUITING","2026-05-07",{"date":39,"type":40},"2026-05-11","ACTUAL",{"date":42,"type":40},"2023-03-21",{"date":44,"type":22},"2027-04-30",{"name":46,"class":47},"Georgios Papadakis","OTHER",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":11,"sex":17,"minAge":57,"maxAge":58,"enrollmentInfo":59,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":62,"conditions":63,"keywords":66,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":48},"100483908","thyroid-function-and-structure-in-klinefelter-syndrome-100483908","NCT05581147","Thyroid Function and Structure in Klinefelter Syndrome","Thyroid Function and Structure in Klinefelter Syndrome (THINKS)","THINKS","Inclusion Criteria:\n\n* Patients with a confirmed diagnosis of classic, non-mosaic 47,XXY Klinefelter syndrome based on a peripheral blood 97 karyotype analysis;\n* Availability of thyroid function test results (TSH, fT3, and fT4) and\u002For thyroid US imaging;\n* Availability of concurrent clinical data.\n\nExclusion Criteria:\n\n* Presence of other known genetic conditions or chromosomal abnormalities;\n* Use of levothyroxine or other drugs that are either active on the hypothalamic-pituitary-thyroid (HPT) axis or that may interfere with thyroid function tests;\n* History of previous surgery or radiotherapy on the thyroid or pituitary glands;\n* Current or previous T therapy (for the pre-pubertal and pubertal groups).","1 Year","80 Years",{"count":60,"type":22},600,"OBSERVATIONAL","This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.",[28,64,65],"Thyroiditis, Autoimmune","Hypothyroidism",[67,65,68,69,70,71],"Klinefelter syndrome","Thyroiditis","Puberty","Prepuberty","Testosterone","2025-03-25",{"date":74,"type":40},"2025-03-30",{"date":76,"type":40},"2007-05-11",{"date":78,"type":22},"2026-12-01",{"name":80,"class":47},"University of Roma La Sapienza",{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":87,"eligibilityCriteria":88,"healthyVolunteers":11,"sex":17,"minAge":89,"maxAge":90,"enrollmentInfo":91,"targetDuration":4,"studyType":23,"phases":93,"briefSummary":95,"conditions":96,"keywords":97,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":48},"100538757","phase-4-klinefelter-syndrome-and-testosterone-treatment-in-puberty-100538757","NCT06294990","Klinefelter Syndrome and Testosterone Treatment in Puberty","Klinefelter Syndrome - the Effect of Testosterone Treatment in Puberty. a Randomized, Double-blind Placebo-controlled Intervention Study: 'The TiPY Study'","TiPY","Inclusion Criteria:\n\n* 47,XXY Klinefelter syndrome\n* Age 10-14 years at inclusion\n* Luteinizing Hormone \\> +2 standard deviations (SD) by ultrasensitive luteinizing hormone assay\n* Free Testosterone\\\u003C+2 standard deviations\n* Signed consent from parents\n\nExclusion Criteria:\n\n* Previous or ongoing T treatment except for TRT because of micropenis\n* Contraindications to testosterone treatment known hypersensitivity to testosterone or to any other constituent of the gel known or suspected prostatic cancer or breast carcinoma\n* Participation in any other clinical trial","10 Years","14 Years",{"count":92,"type":22},32,[94],"PHASE4","The goal of this randomized clinical trial is to study the effect of testosterone replacement therapy during puberty in boys with Klinefelter syndrome (KS, 47,XXY).\n\nThe main questions to answer are how treatment with testosterone will affect body fat mass, lipid and glucose metabolism, growth and body proportions, bone mineralization as well as effects on neurocognitive development and emotional and social difficulties.\n\nParticipants will be randomized to two years treatment with testosterone or placebo.",[28],[67,69,98],"Body composition","2025-02-14",{"date":101,"type":40},"2025-02-19",{"date":103,"type":40},"2024-08-15",{"date":105,"type":22},"2029-12-31",{"name":107,"class":47},"Lise Aksglæde",{"id":109,"slug":110,"hasResults":11,"nctId":111,"briefTitle":112,"officialTitle":112,"acronym":4,"eligibilityCriteria":113,"healthyVolunteers":11,"sex":114,"minAge":115,"maxAge":116,"enrollmentInfo":117,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":119,"conditions":120,"keywords":132,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":153,"lastUpdatePostDateStruct":154,"startDateStruct":156,"completionDateStruct":158,"leadSponsor":160,"locationsCount":162},"100316207","the-extroardinary-babies-study-natural-history-of-health-and-neurodevelopment-in-infants-and-young-children-with-sex-chromosome-trisomy-100316207","NCT03396562","The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy","Inclusion Criteria:\n\n1. Prenatal diagnosis of sex chromosome aneuploidy (by cfDNA, chorionic villi sampling, and\u002For amniocentesis)\n2. Postnatal confirmatory karyotype of XXY, XYY, XXX, XXYY, XYYY, XXXY, XXXX, XXXXX, XXXXY, XXXYY, XXYYY, XYYYY (including any mosaicism with \\\u003C80% 46,XX or 46,XY cell line)\n3. English or Spanish speaking\n4. Age 6 weeks to 12 months 30 days on enrollment\n\nExclusion Criteria:\n\n1. Previous diagnosis of a different genetic or metabolic disorder with neurodevelopmental or endocrine involvement\n2. Prematurity less than 34 weeks gestational age\n3. Complex congenital malformation not previously associated with sex chromosome aneuploidy\n4. History of significant neonatal complications (ie intraventricular hemorrhage, meningitis, hypoxic-ischemic encephalopathy)\n5. Known complex Central Nervous System (CNS) malformation identified by neuroimaging","ALL","6 Weeks","13 Months",{"count":118,"type":22},300,"This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY\u002FKlinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants and young children with XXY\u002FKlinefelter syndrome, XYY, XXX, and other sex chromosome variations.",[28,121,122,123,124,125,126,127,128,129,130,131],"Trisomy X","XYY Syndrome","XXXY and XXXXY Syndrome","Xxyy Syndrome","Xyyy Syndrome","Xxxx Syndrome","Xxxxx Syndrome","Xxxyy Syndrome","Xxyyy Syndrome","Xyyyy Syndrome","Male With Sex Chromosome Mosaicism",[133,134,135,121,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152],"body composition","klinefelter syndrome","XXY","XXX","XYY","XXYY","XXXY","XXXXY","sex chromosome variation","sex chromosome aneuploidy","sex chromosome trisomy","testosterone","XYYY","XXXX","XXXXX","XXXYY","XXYYY","XYYYY","developmental delay","speech development","2024-05-07",{"date":155,"type":40},"2024-05-09",{"date":157,"type":40},"2017-09-29",{"date":159,"type":22},"2028-03-01",{"name":161,"class":47},"University of Colorado, Denver",2,{"id":164,"slug":165,"hasResults":11,"nctId":166,"briefTitle":167,"officialTitle":168,"acronym":169,"eligibilityCriteria":170,"healthyVolunteers":171,"sex":114,"minAge":172,"maxAge":173,"enrollmentInfo":174,"targetDuration":4,"studyType":23,"phases":176,"briefSummary":178,"conditions":179,"keywords":188,"overallStatus":192,"whyStopped":4,"lastUpdateSubmitDate":193,"lastUpdatePostDateStruct":194,"startDateStruct":196,"completionDateStruct":198,"leadSponsor":199,"locationsCount":201},"100381852","growing-up-with-the-young-endocrine-support-system-yess-100381852","NCT04252001","Growing up With the Young Endocrine Support System (YESS!)","Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care","YESS","Inclusion Criteria:\n\n* Aged 15 to 20 years old.\n* Diagnosed with congenital adrenal hyperplasia, hypogonadotropic hypogonadism, Turner syndrome, Klinefelter syndrome, growth hormone deficiency, combined pituitary hormone deficiency, Androgen insensitivity syndrome, thyroid dysgenesis or Addison's disease\n\nExclusion Criteria:\n\n* Lack of a mobile phone or tablet.\n* Intellectual disability or language barrier leading to inability to use the YESS! game or the control game.",true,"15 Years","20 Years",{"count":175,"type":22},160,[177],"NA","Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out of paediatric care. Non-attendance and sub-optimal medical self-management can lead to serious and expensive medical complications. In a pilot study, adolescents suggested the use of e-technology to become more involved in the transition process. The investigators have designed and developed the YESS! game, a tool to help improve medical self-management in adolescents with chronic endocrine disorders. The hypothesis is that adolescents playing the YESS! game will show a larger increase in self-management score during the first year of transition and will have a lower drop-out rate at the adult endocrine outpatient clinic (OPC), compared to adolescents who do not play the game.",[180,181,182,183,184,28,185,186,187],"Congenital Adrenal Hyperplasia","Hypogonadotropic Hypogonadism","Growth Hormone Deficiency","Combined Pituitary Hormone Deficiency","Turner Syndrome","Addison's Disease","Androgen Insensitivity Syndrome","Thyroid Dysgenesis",[189,190,191],"Serious game","Endocrinology","Transition","NOT_YET_RECRUITING","2023-09-06",{"date":195,"type":40},"2023-09-07",{"date":197,"type":22},"2024-12-01",{"date":78,"type":22},{"name":200,"class":47},"dr. Laura C. G. de Graaff-Herder",7]