ORPHA:168558
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Also known as: 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure
Publications
85
55th percentile
Trials
1
Interventional, condition-specific
Researchers
511
Distinct authors in sample
Gene link
CYP11A1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013400
- MeSH:C566130
- OMIM:613743
- UMLS:C3151055
- NCIT:C131422
Additional Mondo synonyms (5)
XY sex reversal-adrenal failure syndrome · adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete · adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete · cholesterol side-chain cleavage deficiency · p450scc 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — CYP11A1
- LiteraturePresent
85 matched papers (55 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 trialPresent
1 matched on ClinicalTrials.gov
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 (CYP11A1).
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?
85
85 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.
85 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).
55 in the last 10 years · high confidence · 55th percentile (publications denominator)
Phrase hits: 81 · MeSH hits: 4
Who's working on it?
511
Distinct author names in 85 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Miller WL13 papers · 2025
Department of Pediatrics, Center for Reproductive Sciences, and Institute for Human Genetics, University of California, San Francisco, CA, USA.
Papers in Europe PMC - 02Achermann JC9 papers · 2022
Developmental Endocrinology Research Group, University College London Institute of Child Health, London, UK.
Papers in Europe PMC - 03Buonocore F5 papers · 2022
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Papers in Europe PMC - 04Tee MK4 papers · 2013
Department of Pediatrics, University of California, San Francisco, San Francisco, California, 94143, USA.
Papers in Europe PMC - 05Ahmed SF3 papers · 2022
Royal Hospital for Sick Children, University of Glasgow, GlasgowDevelopmental Endocrinology, UCL Institute of Child Health, University College London, LondonInstitute of Biomedical Research, University of Birmingham, BirminghamLeeds Centre for Reproductive Medicine, Leeds Teaching Hospitals, LeedsDepartment of Endocrinology, University College London Hospitals, LondonAlder Hey Children's NHS Foundation Trust, LiverpoolCLIMB CAH Support GroupDepartment of Paediatrics, University of Cambridge, CambridgeClinical Genetics Dept, Guys Hospital, LondonDept Clinical Biochemistry, Barts and the London NHS Trust, LondonDepartment Paediatric Urology, Alder Hey NHS Foundation Trust, LiverpoolAIS Support GroupDepartment of Biochemistry, Glasgow Royal Infirmary, Glasgow, UKSociety for Endocrinology, Bristol, UK.
Papers in Europe PMC - 06Hiort O3 papers · 2023
Pediatric Endocrinology and DiabetologyChildren's Hospital, University of Luebeck, Luebeck, Germany.
Papers in Europe PMC - 07Krone N3 papers · 2017
Division of Medical Sciences, University of Birmingham, Birmingham, UK.
Papers in Europe PMC - 08Merke DP3 papers · 2024
National Institutes of Health Clinical Center, Bethesda, MD, United States.
Papers in Europe PMC - 09Sahakitrungruang T3 papers · 2015
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, 10330 Bangkok, Thailand. [corrected].
Papers in Europe PMC - 10Arlt W2 papers · 2016
Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham Medical School, Birmingham, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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-adrenal insufficiency due to CYP11A1 deficiency" OR "46,XY difference of the sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "46,XY disorder of the sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "XY sex reversal-adrenal failure" OR "XY sex reversal-adrenal failure syndrome" OR "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" OR "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" OR "cholesterol side-chain cleavage deficiency" OR "p450scc deficiency"
MeSH descriptor terms unioned into the query: Adrenal Insufficiency, Congenital
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "46,XY difference of the sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "46,XY disorder of the sex development-adrenal insufficiency due to CYP11A1 deficiency" OR "XY sex reversal-adrenal failure" OR "XY sex reversal-adrenal failure syndrome" OR "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" OR "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" OR "cholesterol side-chain cleavage deficiency" OR "p450scc deficiency" OR "Adrenal Insufficiency, Congenital" OR "CYP11A1"
Recall-expansion terms: CYP11A1
Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T08:26:56.865Z