Klinefelter Syndrome

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1Active trials16Specialists8Treatment centers

Where are you in your journey?

UniteRare data is compiled from authoritative primary sources (FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, NORD), then processed through automated and AI-assisted extraction pipelines.
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What is Klinefelter Syndrome?

Klinefelter Syndrome is treated with 1 medication in our database, including Jatenzo. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Tolmar. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Klinefelter Syndrome treatment below.

Inheritance
Sporadic
Usually appears on its own, not inherited from a parent
Age of Onset
Variable
Can begin at different ages, from infancy through adulthood
NORD ↗

FDA & Trial Timeline

1 event
Mar 2023Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome

Georgios Papadakis — PHASE3

TrialRECRUITING

Data is compiled from FDA regulatory filings and ClinicalTrials.gov, then processed through automated extraction; event classifications and dates may occasionally be misclassified. Verify against the linked FDA filing or trial record before clinical decisions. Updated periodically.

Treatments

0 FDA-approved · 1 other tracked

Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly

Other tracked therapies (1)

Medications tracked in our therapeutics database that are not FDA-approved for Klinefelter Syndrome via a labelled indication. May include investigational, off-label, or supportive therapies. Always verify with a clinician before use.

Jatenzo

testosterone undecanoate· TolmarNot FDA-labelled for Klinefelter Syndrome

* Patient Copay Amount: As little as $0 per month for eligible patients with commercial insurance. * Maximum Annual Benefit Limit: Not Publicly Available (The program covers up to $393 for a 1-month s

Clinical Trials

1 recruitingView all trials with filters →

Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

Phase 31 trial
Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
Phase 3
Actively Recruiting
PI: GEORGIOS PAPADAKIS, MD (Service of endocrinology, diabetes & metabolism, C) · Sites: Lausanne · Age: 16–65 yrs

Specialists

16 foundView all specialists →

Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)

US
Umasuthan Srirangalingam
Specialist

Specialty unconfirmed

University College London Hospitals NHS Foundation Trust

Last updated · Apr 20261 Klinefelter Syndrome publication
GB
Gary Butler
Specialist

Specialty unconfirmed

University College London Hospitals NHS Foundation Trust

Last updated · Apr 20261 Klinefelter Syndrome publication
JF
Jennie Faithfull
Specialist

Specialty unconfirmed

University College London Hospitals NHS Foundation Trust

Last updated · Apr 20261 Klinefelter Syndrome publication
GM
GEORGIOS PAPADAKIS, MD
Lausanne
Specialist

Rare Disease Specialist

Service of Endocrinology, Diabetes & Metabolism

Last updated · Mar 20261 Klinefelter Syndrome publication
SS
Senthil Senniappan
Specialist

Specialty unconfirmed

Alder Hey Children's Hospital

Last updated · Apr 20262 Klinefelter Syndrome publications
SC
Simon Chang
Specialist

Specialty unconfirmed

Aarhus University Hospital

Last updated · Apr 20262 Klinefelter Syndrome publications
FC
Francesco Carlomagno
Specialist

Specialty unconfirmed

Sapienza University of Rome

Last updated · Apr 20262 Klinefelter Syndrome publications
US
Umasuthan Sriranglingam
Specialist

Specialty unconfirmed

University College London Hospitals

Last updated · Apr 20261 Klinefelter Syndrome publication
JB
James Blackburn
Specialist

Specialty unconfirmed

Alder Hey Children's Hospital

Last updated · Apr 20261 Klinefelter Syndrome publication
AR
Anand Ramakrishnan
Specialist

Specialty unconfirmed

Alder Hey Children's Hospital

Last updated · Apr 20261 Klinefelter Syndrome publication
AF
Alberto Ferlin
Specialist

Specialty unconfirmed

University Hospital of Padova

Last updated · Apr 20262 Klinefelter Syndrome publications
CG
Catherine Graham
Specialist

Specialty unconfirmed

Alder Hey Children's Hospital

Last updated · Apr 20261 Klinefelter Syndrome publication
AI
Andrea M Isidori
Specialist

Specialty unconfirmed

Sapienza University of Rome

Last updated · Apr 20262 Klinefelter Syndrome publications
PS
Philippa Sangster
Specialist

Specialty unconfirmed

University College London Hospitals NHS Foundation Trust

Last updated · Apr 20261 Klinefelter Syndrome publication
KB
Katerina Bambang
Specialist

Specialty unconfirmed

Liverpool Women's NHS Foundation Trust

1 Klinefelter Syndrome publication
MZ
Michael Zitzmann
Specialist

Specialty unconfirmed

Centrum für Reproduktionsmedizin und Andrologie/klinische Andrologie

2 Klinefelter Syndrome publications

Treatment Centers

8 centers

Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

🏨 Children's

Children's Hospital Colorado Rare Disease Program

Children's Hospital Colorado

📍 Aurora, CO

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Boston Children's Hospital Rare Disease Program

Boston Children's Hospital

📍 Boston, MA

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

🏨 Children's

Ann & Robert H. Lurie Children's Hospital Genetics

Lurie Children's Hospital

📍 Chicago, IL

👤 Boston Children's Hospital Rare Disease Program

🏥 NORD

Cincinnati Children's Hospital Medical Center

Cincinnati Children's

📍 Cincinnati, OH

👤 Boston Children's Hospital Rare Disease Program

🏨 Children's

Nationwide Children's Hospital Rare Disease Center

Nationwide Children's Hospital

📍 Columbus, OH

👤 Boston Children's Hospital Rare Disease Program

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Travel Grants

No travel grants are currently matched to Klinefelter Syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Klinefelter SyndromeForum →

No community posts yet. Be the first to share your experience with Klinefelter Syndrome.

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Latest news about Klinefelter Syndrome

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Disease timeline:

New trial: Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome

Phase PHASE3 trial recruiting. Anastrozole

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Klinefelter Syndrome

What is Klinefelter Syndrome?

Klinefelter Syndrome is treated with 1 medication in our database, including Jatenzo. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Tolmar. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Klinefelter Syndrome treatment below.

How is Klinefelter Syndrome inherited?

Klinefelter Syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Klinefelter Syndrome?

Yes — 1 recruiting clinical trial is currently listed for Klinefelter Syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Klinefelter Syndrome?

16 specialists and care centers treating Klinefelter Syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Klinefelter Syndrome?

1 FDA-approved treatment are currently tracked on UniteRare for Klinefelter Syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.

Frequently asked questions about Klinefelter Syndrome

Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.

  1. What is Klinefelter Syndrome?

    Klinefelter Syndrome is a rare disease catalogued in international rare-disease ontologies. It is typically inherited as sporadic. Age of onset is generally variable. For verified primary sources, see the UniteRare Klinefelter Syndrome page.

  2. How is Klinefelter Syndrome inherited?

    Klinefelter Syndrome follows sporadic inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.

  3. Are there FDA-approved treatments for Klinefelter Syndrome?

    Yes — UniteRare tracks 1 FDA-approved treatment with indications relevant to Klinefelter Syndrome. Each entry includes prescribing information, orphan-drug-designation status where applicable, and the FDA application number for verification.

  4. Are there clinical trials recruiting for Klinefelter Syndrome?

    UniteRare currently lists 1 clinical trial relevant to Klinefelter Syndrome sourced from ClinicalTrials.gov. Each trial entry includes recruitment status, eligibility criteria summary, principal-investigator information, and study locations. Patients should discuss eligibility with their healthcare provider before enrolling.

  5. How do I find a specialist for Klinefelter Syndrome?

    UniteRare lists 16 verified clinicians with documented expertise in Klinefelter Syndrome, sourced from ClinicalTrials.gov principal-investigator records, PubMed publication histories, and the NPPES NPI registry. Filter by state or browse our state-specific specialist pages for nearby options.

See full Klinefelter Syndrome page for complete clinical details, sources, and verified-specialist listings.

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