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ORPHA:983

Testicular regression syndrome

medium confidenceDisorder

Also known as: ETRS · Embryonic testicular regression syndrome · TRS · Vanishing testes syndrome · Vanishing testis syndrome · XY gonadal agenesis syndrome

Publications

622

82.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,060

Distinct authors in sample

Gene link

DHX37

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The depends on the extent and timing of the intrauterine accident in relation to sexual development.

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 sex reversal 11 · SRXY11 · embryonic testicular regression syndrome · testicular regression syndrome · vanishing testes syndrome · vanishing testis syndrome

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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — DHX37

  2. LiteraturePresent

    622 matched papers (462 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Vanishing testis; Urogenital sinus anomaly; Aplasia of the uterus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Yes — we know a specific gene responsible (DHX37).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

22

Associated phenotypes · MONDO:8000015

  • Vanishing testis
  • Urogenital sinus anomaly
  • Aplasia of the uterus
  • Gonadal dysgenesis with female appearance, male
  • Absence of pubertal development

Showing 5 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

622

622 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.

622 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).

462 in the last 10 years · medium confidence · 82.5th percentile (publications denominator)

Phrase hits: 255 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,060

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 K8 papers · 2025

    Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France. kenneth.mcelreavey@pasteur.fr.

    Papers in Europe PMC
  2. 02
    Nahata L8 papers · 2025

    Department of Pediatrics, Division of Endocrinology and Center for Biobehavioral Health, The Ohio State University/Nationwide Children's Hospital, Columbus, Ohio.

    Papers in Europe PMC
  3. 03
    Bashamboo A7 papers · 2025

    Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  4. 04
    Achermann JC6 papers · 2020

    Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

    Papers in Europe PMC
  5. 05
    Chan YM6 papers · 2025

    Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital.

    Papers in Europe PMC
  6. 06
    Tishelman AC6 papers · 2025

    Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital.

    Papers in Europe PMC
  7. 07
    Brauner R5 papers · 2025

    Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie Pédiatrique, Le Kremlin Bicêtre, France. raja.brauner@wanadoo.fr

    Papers in Europe PMC
  8. 08
    Crerand CE5 papers · 2025

    Nationwide Children's Hospital.

    Papers in Europe PMC
  9. 09
    Rey RA5 papers · 2024

    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez , Buenos Aires , Argentina.

    Papers in Europe PMC
  10. 10
    Bignon-Topalovic J4 papers · 2023

    Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France.

    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).

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Testicular regression syndrome — 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.

("Testicular regression syndrome" OR "Embryonic testicular regression syndrome" OR "Vanishing testes syndrome" OR "Vanishing testis syndrome" OR "XY gonadal agenesis syndrome" OR "46, XY sex reversal 11" OR "SRXY11") OR ("DHX37" OR "DHX37 syndrome" OR "DHX37-related")

Run this search on Europe PMC

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

"Testicular regression syndrome" OR "Embryonic testicular regression syndrome" OR "Vanishing testes syndrome" OR "Vanishing testis syndrome" OR "XY gonadal agenesis syndrome" OR "46, XY sex reversal 11" OR "SRXY11"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: ETRS; TRS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T16:06:06.481Z