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Klinefelter syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Klinefelter syndrome

MONDO:0006823

Also known as:47,XXY syndromeKlinefelter's syndromeKlinefelter's syndrome, XXY

Find Clinical TrialsTrials

Overview

A 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.

Clinical Trials10 registered · 5 recruiting

Patient Orgs3 organizations · American Association for Klinefelter Syndrome Information and Support, Focus Foundation, Inc. + 1 more

Diagnosis

Biomarker and diagnostic research for Klinefelter syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

10 clinical trials registered, 5 recruiting. Interventions under study include other interventions, drug therapy, and medical devices. Pipeline includes 2 PHASE4, 1 PHASE3, 2 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03396562](https://clinicaltrials.gov/study/NCT03396562)

Data assembled from 3 of 12 sources · Last updated Oct 3, 2026, 8:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

American Association for Klinefelter Syndrome Information and SupportPrimary Focus

USWebsite ↗

Focus Foundation, Inc.Primary Focus

USWebsite ↗

Living With XXYPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

Questions for Your Care Team

→Are any of the 10 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with American Association for Klinefelter Syndrome Information and Support and other patient organizations for support?

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Research Type	Count	% of Total
Research summaries	24	35%
Laboratory research	16	23%
Disease patterns and progression	15	22%
Patient case studies	6	9%
Other research	3	4%
Clinical study results	3	4%
Testing and diagnosis research	2	3%

Klinefelter syndrome

Overview

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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