Klinefelter syndrome
MONDO:0006823A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
Also known as: 47,XXY syndrome, Klinefelter syndrome, Klinefelter's syndrome, Klinefelter's syndrome, XXY, XXY syndrome, XXY syndrome (Klinefelter syndrome), hypogonadotropic hypogonadism
17 clinical trials for this condition and its sub-types, 9 tagged with Klinefelter syndrome itself.
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Can hormone balancing boost fertility and health in klinefelter syndrome?
Disease control Recruiting nowThis study tests whether adjusting sex hormone levels with aromatase inhibitors can improve metabolic health and sperm production in men with Klinefelter syndrome. It also examines if adding semaglutide (a weight-loss drug) or hCG provides extra benefits. The trial involves 150 m…
Phase 3 • Sponsor: Georgios Papadakis • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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Frozen hope: new study aims to help boys become fathers after cancer
Disease control Recruiting nowThis study offers boys aged 0-17 the chance to freeze testicular tissue before undergoing treatments like chemotherapy or radiation that could cause permanent infertility. The tissue is stored for potential future use to achieve pregnancy. Researchers will track whether transplan…
Sponsor: Mayo Clinic • Aim: Disease control
Last updated Jun 27, 2026 08:02 UTC
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Social coaching may ease anxiety and autism traits in rare chromosome conditions
Symptom relief Recruiting nowThis trial tests whether a 10-session group program called Social Management Training can improve mental health, executive function, and social skills in adults aged 16 to 69 who have sex chromosome aneuploidies (extra or missing sex chromosomes). Participants complete questionna…
Phase 1 • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jul 24, 2026 00:00 UTC