ORPHA:753
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Also known as: 46,XY DSD due to 5-alpha-reductase 2 deficiency · 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias · Steroid 5-alpha-reductase 2 deficiency
Publications
149
53.3th percentile
Trials
0
Interventional, condition-specific
Researchers
722
Distinct authors in sample
Gene link
SRD5A2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male with pseudovaginal posterior hypospadias and micropenis.
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:0009923
- MeSH:C535830
- OMIM:264600
- UMLS:C0268297
- NCIT:C98699
Additional Mondo synonyms (5)
3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency · 5 Alpha steroid reductase 2 deficiency · Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency · pseudovaginal perineoscrotal hypospadias · steroid 5-alpha-reductase 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
Strong — SRD5A2
- LiteraturePresent
149 matched papers (50 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 (SRD5A2).
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?
149
149 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.
149 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).
50 in the last 10 years · high confidence · 53.3th percentile (publications denominator)
Phrase hits: 149 · MeSH hits: 0
Who's working on it?
722
Distinct author names in 149 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.
- 01Wilson JD12 papers · 1996
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235.
Papers in Europe PMC - 02Imperato-McGinley J9 papers · 2006
New York Hospital-Cornell University Medical Center, Department of Medicine, NY 10021.
Papers in Europe PMC - 03Griffin JE8 papers · 1993Papers in Europe PMC
- 04Russell DW7 papers · 1996Papers in Europe PMC
- 05Hiort O4 papers · 2013
Division of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany. olaf.hiort@uksh.de
Papers in Europe PMC - 06Peterson RE4 papers · 1991Papers in Europe PMC
- 07Sultan C4 papers · 2010
Pediatric Endocrine Unit, Department of Pediatrics, Hôpital A. de Villeneuve, CHU Montpellier, 34295 Montpellier Cedex, France.
Papers in Europe PMC - 08Davis DL3 papers · 1996Papers in Europe PMC
- 09Gautier T3 papers · 1994Papers in Europe PMC
- 10Leshin M3 papers · 1984Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26Directly listed under NPRD Group 1.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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 5-alpha-reductase 2 deficiency" OR "46,XY difference of the sex development due to 5-alpha-reductase 2 deficiency" OR "46,XY DSD due to 5-alpha-reductase 2 deficiency" OR "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" OR "46,XY disorder of the sex development due to 5-alpha-reductase 2 deficiency" OR "Pseudovaginal perineoscrotal hypospadias" OR "Steroid 5-alpha-reductase 2 deficiency" OR "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" OR "5 Alpha steroid reductase 2 deficiency" OR "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" OR "steroid 5-alpha-reductase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency" OR "46,XY difference of the sex development due to 5-alpha-reductase 2 deficiency" OR "46,XY DSD due to 5-alpha-reductase 2 deficiency" OR "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" OR "46,XY disorder of the sex development due to 5-alpha-reductase 2 deficiency" OR "Pseudovaginal perineoscrotal hypospadias" OR "Steroid 5-alpha-reductase 2 deficiency" OR "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" OR "5 Alpha steroid reductase 2 deficiency" OR "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" OR "steroid 5-alpha-reductase deficiency" OR "SRD5A2" OR "46 XY differences of sex development"
Recall-expansion terms: SRD5A2, 46 XY differences of sex development
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T15:13:00.364Z