ORPHA:1772
45,X/46,XY mixed gonadal dysgenesis
Also known as: 45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY mixed gonadal dysgenesis
Publications
114
59.2th percentile
Trials
0
Interventional, condition-specific
Researchers
683
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015779
- NCIT:C120199
Additional Mondo synonyms (3)
45,X/46,XY disorder of Sex development · 45,X/46,XY gonadal dysgenesis · XY/X0
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
114 matched papers (67 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 3 for broader category gonadal dysgenesis
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?
114
114 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
114 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).
67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 114 · MeSH hits: 0
Who's working on it?
683
Distinct author names in 114 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sandberg DE8 papers · 2026
Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan.
Papers in Europe PMC - 02Gardner M4 papers · 2026
Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan.
Papers in Europe PMC - 03Vilain E4 papers · 2017
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California.
Papers in Europe PMC - 04Ahmed SF3 papers · 2025
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Royal Hospital for Children, Glasgow, UK.
Papers in Europe PMC - 05Caduff M3 papers · 2024
Department of Biology, University of Fribourg, Fribourg, Switzerland.
Papers in Europe PMC - 06Chen H3 papers · 2024
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Papers in Europe PMC - 07Eckel R3 papers · 2024
Department of Biology, University of Fribourg, Fribourg, Switzerland.
Papers in Europe PMC - 08Leuenberger C3 papers · 2024
Department of Biology, University of Fribourg, Fribourg, Switzerland.
Papers in Europe PMC - 09Rajpert-De Meyts E3 papers · 2025
Department of Growth and Reproduction, Copenhagen University Hospital, Copenhagen, Denmark.
Papers in Europe PMC - 10van Leeuwen K3 papers · 2026
Department of Surgery, Phoenix Children's Hospital, Phoenix, Arizona.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for gonadal dysgenesis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
3 interventional trials matched gonadal dysgenesis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: gonadal dysgenesis
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06518746·RECRUITING·Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation
Conditions: Ovarian Cancer·Matched via name phrase
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"45,X/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY MGD" OR "45,X0/46,XY MGD" OR "45,X0/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY disorder of Sex development" OR "45,X/46,XY disorder of the Sex development" OR "45,X/46,XY gonadal dysgenesis" OR "XY/X0"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"45,X/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY MGD" OR "45,X0/46,XY MGD" OR "45,X0/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY disorder of Sex development" OR "45,X/46,XY disorder of the Sex development" OR "45,X/46,XY gonadal dysgenesis" OR "XY/X0"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"gonadal dysgenesis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:06:19.091Z