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ORPHA:881

Turner syndrome

medium confidenceDisorder

Also known as: 45,X syndrome · 45,X/46,XX syndrome

Publications

25,843

98.8th percentile

Trials

47

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

45,X gonadal dysgenesis · 45,X0 syndrome · 45X syndrome · karyotype 45, X

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    25,843 matched papers (11,929 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    47 matched on ClinicalTrials.gov (12 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

25,843

25,843 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

25,843 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

11,929 in the last 10 years · medium confidence · 98.8th percentile (publications denominator)

Phrase hits: 25,843 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,165

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Li L4 papers · 2026

    Yulin Women and Children Health Care Hospital, Yulin, Guangxi, China.

    Papers in Europe PMC
  2. 02
    Gutmark-Little I3 papers · 2026

    Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

    Papers in Europe PMC
  3. 03
    Huang Y3 papers · 2026

    Department of Otorhinolaryngology.

    Papers in Europe PMC
  4. 04
    Jamalinia M3 papers · 2026

    Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

    Papers in Europe PMC
  5. 05
    Kim JH3 papers · 2026

    Department of Pediatrics, Asan Medical Centre Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea. Electronic address: pedkjh@amc.seoul.kr.

    Papers in Europe PMC
  6. 06
    Li Y3 papers · 2026

    Department of Gynecological Endocrinology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Liu X3 papers · 2026

    Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Reproductive Medicine Center, Changsha Hospital for Maternal & Child Health Care, Hunan Normal University, 416 Chengnan Road, Yuhua District, Changsha, 410007, China.

    Papers in Europe PMC
  8. 08
    Lonardo A3 papers · 2026

    Department of Internal Medicine, Azienda Ospedaliero-Universitaria Di Modena (-2023), Modena, Italy.

    Papers in Europe PMC
  9. 09
    Prakash SK3 papers · 2026

    Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

    Papers in Europe PMC
  10. 10
    Sowińska-Przepiera E3 papers · 2026

    Pediatric, Adolescent Gynecology Clinic, Department of Gynecology, Endocrinology and Gynecological Oncology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

47

interventional trials for this specific condition

47 interventional trials matched this specific condition name; 12 currently recruiting in our sample.

Data as of 27 July 2026

47 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.9th percentile).

medium confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

47 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

58 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Turner syndrome" OR "45,X syndrome" OR "45,X/46,XX syndrome" OR "45,X gonadal dysgenesis" OR "45,X0 syndrome" OR "45X syndrome" OR "karyotype 45, X"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Turner syndrome" OR "45,X syndrome" OR "45,X/46,XX syndrome" OR "45,X gonadal dysgenesis" OR "45,X0 syndrome" OR "45X syndrome" OR "karyotype 45, X"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 47 interventional · 58 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:44:20.006Z