ORPHA:983
Testicular regression syndrome
Also known as: ETRS · Embryonic testicular regression syndrome · TRS · Vanishing testes syndrome · Vanishing testis syndrome · XY gonadal agenesis syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
255
73.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,060
Distinct authors in sample
Gene link
DHX37
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:8000015
- MeSH:C537770
- OMIM:273250
- UMLS:C0266427
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.”
2/6 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.
- Gene identifiedPresent
Strong — DHX37
- LiteraturePresent
255 matched papers (145 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 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)
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?
255
255 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.
255 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).
145 in the last 10 years · medium confidence · 73.2th percentile (publications denominator)
Phrase hits: 255 · MeSH hits: 0
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.
- 01McElreavey K8 papers · 2025
Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France. kenneth.mcelreavey@pasteur.fr.
Papers in Europe PMC - 02Nahata 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 - 03Bashamboo A7 papers · 2025
Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France.
Papers in Europe PMC - 04Achermann 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 - 05Chan YM6 papers · 2025
Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital.
Papers in Europe PMC - 06Tishelman AC6 papers · 2025
Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital.
Papers in Europe PMC - 07Brauner 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 - 08
- 09Rey 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 - 10Bignon-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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"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"
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" OR "DHX37"
Recall-expansion terms: DHX37
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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