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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
23 clinical trials for this condition and its sub-types.
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New study aims to unlock mysteries of sex chromosome disorders in children
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists probe genetic secrets of lost fetuses to unravel sex chromosome mysteries
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
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Brain scans reveal hidden links between body diseases and metabolism
Knowledge-focused OngoingThis study watches 200 people with lung, gut, or hormone diseases over time using special brain scans (PET). It aims to see how these diseases change brain activity and whether those changes can predict tumor return, spread, or survival. No new treatment is tested—just observatio…
Sponsor: The First Affiliated Hospital of Zhengzhou University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC
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300 men with klinefelter syndrome to be tracked for decades in landmark study
Knowledge-focused ENROLLING_BY_INVITATIONThis study will follow 300 men with Klinefelter syndrome (an extra X chromosome) who are treated at a Danish hospital. Researchers will collect medical records, scans, and blood samples to map how the condition affects growth, hormones, fertility, heart health, and mental well-be…
Sponsor: Rigshospitalet, Denmark • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:49 UTC
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10,000 genomes scoured for clues to rare brain diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.
Sponsor: Karolinska Institutet • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:56 UTC