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

Rare Disease

Turner syndrome

MONDO:0019499

Also known as:gonadal dysgenesis45,X gonadal dysgenesis45,X syndrome

Find Clinical TrialsTrials

Overview

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials36 registered · 10 recruiting

Patient Orgs4 organizations · Turner Syndrome Foundation, Turner Syndrome Society of Canada + 2 more

Diagnosis

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

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Turner syndrome. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Turner syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Turner syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Estimated prevalence: 1-5 in 10,000 (Uncommon).

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.

36 clinical trials registered, 10 recruiting. Interventions under study include other interventions, drug therapy, procedural interventions, and gene therapy. Pipeline includes 3 PHASE4, 4 PHASE3, 5 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06202846](https://clinicaltrials.gov/study/NCT06202846)

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:23 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Turner Syndrome FoundationPrimary Focus

USWebsite ↗

Patient Registry

Enroll Now

Turner Syndrome Society of CanadaPrimary Focus

USWebsite ↗

Turner Syndrome Society Of The United StatesPrimary Focus

USWebsite ↗

Turner Syndrome Support Society (UK)Primary Focus

USWebsite ↗

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

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:881

GARD

Genetic and Rare Diseases Info Center

GARD:7831

Questions for Your Care Team

→Are any of the 36 active clinical trials a good fit for my situation?
→What is the current development status of Ethinyl Estradiol, USP, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Turner Syndrome Foundation and other patient organizations for support?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	91	34%
Disease patterns and progression	59	22%
Patient case studies	46	17%
Laboratory research	30	11%
Clinical study results	25	9%
Testing and diagnosis research	12	4%
Other research	6	2%
New treatment approaches	2	1%

Kisho

Turner syndrome

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.

Prenatal diagnosis and management of monozygotic twins discordant for Turner syndrome - rare case of twin pathology.

Co-occurrence of moyamoya syndrome and Turner syndrome in a 4-year-old Sudanese girl: a rare case report.

Turner syndrome

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.

Prenatal diagnosis and management of monozygotic twins discordant for Turner syndrome - rare case of twin pathology.

Co-occurrence of moyamoya syndrome and Turner syndrome in a 4-year-old Sudanese girl: a rare case report.