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ORPHA:242

46,XY complete gonadal dysgenesis

low confidenceDisorder

Also known as: 46,XY CGD · 46,XY pure gonadal dysgenesis · Swyer syndrome

Publications

1,124

Trials

0

Interventional, condition-specific

Researchers

1,321

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

46 XY gonadal dysgenesis · 46, XY CGD · 46, XY complete gonadal dysgenesis · 46, XY pure gonadal dysgenesis · 46,XY SEX reversal · 46,XY gonadal dysgenesis

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,124 matched papers (591 in last 10 years) Source

  3. Phenotype characterisedPresent

    157 HPO annotations (e.g. Abnormal female external genitalia morphology; Abnormal vagina morphology; Infertility) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

157

Associated phenotypes · MONDO:0010765

  • Abnormal female external genitalia morphology
  • Abnormal vagina morphology
  • Infertility
  • Sensory ataxic neuropathy
  • Gonadal dysgenesis with female appearance, male

Showing 5 of 157 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,124

1,124 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,124 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

591 in the last 10 years · low confidence

Phrase hits: 1,124 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,321

Distinct author names in 200 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.

  1. 01
    McElreavey K13 papers · 2025

    Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  2. 02
    Bashamboo A11 papers · 2025

    Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  3. 03
    Bignon-Topalovic J6 papers · 2024

    Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  4. 04
    Vilain E6 papers · 2019

    Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, United States; Department of Genomics and Precision Medicine, The George Washington University, Washington, DC, United States. Electronic address: evilain@gwu.edu.

    Papers in Europe PMC
  5. 05
    Brauner R5 papers · 2025

    Pediatric Endocrinology Unit, Foundation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

    Papers in Europe PMC
  6. 06
    Hiort O5 papers · 2025

    Department of Paediatric and Adolescent Medicine, and Division of Experimental Paediatric Endocrinology and Diabetes (R.W., W.B., L.M., O.H.), Departments of Pathology (H.M.), Gynecology (T.S.), Neurology and Institute of Neurogenetics (P.C.), and Paediatric and Adult Movement Disorders and Neuropsychiatry and Institute of Neurogenetics (T.B.), Institute of Integrative and Experimental Genomics (B.R.), University of Luebeck, 23538 Luebeck, Germany; and Department of Biophysics and Biophysical Chemistry (J.M.K.), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

    Papers in Europe PMC
  7. 07
    Nef S5 papers · 2025

    Department of Genetic Medicine and Development University of Geneva, Geneva, Switzerland.

    Papers in Europe PMC
  8. 08
    Poyrazoglu S5 papers · 2026

    Istanbul University, Istanbul Faculty of Medicine, Paediatric Endocrinology Unit, Istanbul, Turkey, sukran.poyrazoglu@istanbul.edu.tr.

    Papers in Europe PMC
  9. 09
    Barseghyan H4 papers · 2019

    Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, United States; Department of Genomics and Precision Medicine, The George Washington University, Washington, DC, United States.

    Papers in Europe PMC
  10. 10
    Darendeliler F4 papers · 2026

    Istanbul University, Istanbul Faculty of Medicine, Paediatric Endocrinology Unit, Istanbul, Turkey.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (60)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for 46,XY complete gonadal dysgenesis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("46,XY complete gonadal dysgenesis" OR "46,XY CGD" OR "46,XY pure gonadal dysgenesis" OR "Swyer syndrome" OR "46 XY gonadal dysgenesis" OR "46, XY CGD" OR "46, XY complete gonadal dysgenesis" OR "46, XY pure gonadal dysgenesis" OR "46,XY SEX reversal" OR "46,XY gonadal dysgenesis")

Run this search on Europe PMC

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

"46,XY complete gonadal dysgenesis" OR "46,XY CGD" OR "46,XY pure gonadal dysgenesis" OR "Swyer syndrome" OR "46 XY gonadal dysgenesis" OR "46, XY CGD" OR "46, XY complete gonadal dysgenesis" OR "46, XY pure gonadal dysgenesis" OR "46,XY SEX reversal" OR "46,XY gonadal dysgenesis"

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
  • Publication count (1124) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:03:13.097Z