Clinical Trials Logo

Clinical Trial Summary

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). The 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. Participants will be randomized to two years treatment with testosterone or placebo.


Clinical Trial Description

Klinefelter syndrome (KS, 47,XXY) is the most frequent sex chromosome disorder with a prevalence of 1:660 boys. Patients with KS are hypogonadal due to a progressive testicular destruction starting already in childhood. Consequently, the adult male with KS is characterized by small testes, signs of incomplete virilization (e.g. lack of voice deepening, sparse face and body hair, gynecomastia, low muscle mass, reduced penile length), hypergonadotropic hypogonadism, infertility and increased risk of metabolic syndrome, diabetes, cardiovascular disease, osteoporosis and psychosocial and neurodevelopmental challenges. Adults with KS have a poor health and a prevention of the major co-morbidities associated with KS and thereby an improvement in the general health would have an enormous impact on the life of a large cohort of males worldwide. Sufficient testosterone is not only important in the adult but also during puberty and adolescence for a normal virilization and to improve body composition and body proportions, as well as to maximize peak bone mass acquisition. It has therefore been internationally accepted and makes biological sense to consider testosterone replacement therapy (TRT) during puberty in KS. However, there are no evidence based recommendations, and during recent years TRT in puberty has been questioned and is no longer recommended in some countries. There is a need on an international level for evaluating the effect of this treatment. We therefore aim at evaluating the effect of 2 years TRT during early puberty in boys with KS aged 10 to 14 years in this national, multi-center, randomized, double-blind, placebo-controlled intervention study. The primary endpoint is to evaluate the effect on body fat mass. The secondary endpoints are to evaluate effects on lipid and glucose metabolism, growth and body proportions, bone mineralization as well as effects on neurocognitive development and emotional and social difficulties. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT06294990
Study type Interventional
Source Rigshospitalet, Denmark
Contact
Status Not yet recruiting
Phase N/A
Start date April 1, 2024
Completion date December 31, 2029

See also
  Status Clinical Trial Phase
Recruiting NCT03396562 - The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Completed NCT02526628 - Thrombosis and Neurocognition in Klinefelter Syndrome
Completed NCT01690013 - Life Quality and Health in Patients With Klinefelter Syndrome N/A
Completed NCT01678261 - X-chromosome Inactivation, Epigenetics and the Transcriptome N/A
Completed NCT01918280 - Fertility Preservation in Cases of Klinefelter Syndrome. N/A
Completed NCT02787486 - Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
Completed NCT03325647 - TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Phase 4
Enrolling by invitation NCT03836300 - Parent and Infant Inter(X)Action Intervention (PIXI) N/A
Recruiting NCT05498090 - Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males With Klinefelter Syndrome Phase 4
Completed NCT00999310 - Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome N/A
Completed NCT02408445 - Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Phase 4
Completed NCT00896272 - Adaptation Among Adolescents and Adults With Klinefelter Syndrome
Completed NCT02723305 - Cardiometabolic Profiles of Boys With Klinefelter Syndrome
Completed NCT05581147 - Thyroid Function and Structure IN Klinefelter Syndrome
Recruiting NCT05586802 - Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome Phase 3
Active, not recruiting NCT02430584 - Whole Blood Specimen Collection From Pregnant Subjects
Completed NCT01817296 - Klinefelter Fertility Preservation N/A
Completed NCT01585831 - Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome N/A
Completed NCT01206270 - Androgen for Leydig Cell Proliferation Phase 2/Phase 3
Withdrawn NCT00347464 - Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome N/A