ORPHA:752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Also known as: 17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency · 17-ketosteroidreductase deficiency · 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
31
34.8th percentile
Trials
0
Interventional, condition-specific
Researchers
262
Distinct authors in sample
Gene link
HSD17B3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009916
- MeSH:C537805
- MeSH:C564868
- OMIM:264300
- UMLS:C0268296
- NCIT:C120203
Additional Mondo synonyms (3)
17 Beta HSD3 deficiency · 17 beta HSD3 deficiency · Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
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
Definitive — HSD17B3
- LiteraturePresent
31 matched papers (17 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 (HSD17B3).
GenCC classification: Definitive.
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?
31
31 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.
31 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).
17 in the last 10 years · high confidence · 34.8th percentile (publications denominator)
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
262
Distinct author names in 31 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.
- 01Andersson S3 papers · 2001
Department of Biochemistry, Merck Research Laboratories, Rahway, New Jersey 07065, USA.
Papers in Europe PMC - 02Hughes IA3 papers · 2004Papers in Europe PMC
- 03Wilson JD3 papers · 2001
Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-8857, USA. jwils1@med.swmed.edu
Papers in Europe PMC - 04Ahmed SF2 papers · 2016
Scottish Genital Anomaly Network, Scotland, UK. gcl328@clinmed.gla.ac.uk
Papers in Europe PMC - 05Bloise W2 papers · 2000Papers in Europe PMC
- 06Fisher AD2 papers · 2022
Andrology, Women Endocrinology and Gender Incongruence, Careggi University Hospital, Florence, Italy.
Papers in Europe PMC - 07Haghighat D2 papers · 2025
Department of Obstetrics and Gynecology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
Papers in Europe PMC - 08Horowitz K2 papers · 2025
Department of Human Genetics, McGill University, Montreal, Québec, Canada.
Papers in Europe PMC - 09
- 10Joly Y2 papers · 2025
Centre of Genomics and Policy, McGill University, Montreal, Québec, Canada.
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.
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.
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.
"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY difference of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-ketoreductase deficiency" OR "17-ketosteroidreductase deficiency" OR "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY disorder of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17 Beta HSD3 deficiency" OR "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY difference of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-ketoreductase deficiency" OR "17-ketosteroidreductase deficiency" OR "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY disorder of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17 Beta HSD3 deficiency" OR "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "HSD17B3" OR "46 XY differences of sex development"
Recall-expansion terms: HSD17B3, 46 XY differences of sex development
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
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 2026-07-26T15:12:34.862Z