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
8,272
Trials
1
Interventional, condition-specific
Researchers
511
Distinct authors in sample
Gene link
CYP11A1
Strong
Readiness
4/6
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.”
4/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — CYP11A1
- LiteraturePresent
8,272 matched papers (5,779 in last 10 years) Source
- Phenotype characterisedPresent
56 HPO annotations (e.g. Cryptorchidism; Male pseudohermaphroditism; Decreased fertility) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
56
Associated phenotypes · MONDO:0013400
- Cryptorchidism
- Male pseudohermaphroditism
- Decreased fertility
- Increased circulating renin concentration
- Agenesis of corpus callosum
Showing 5 of 56 — 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?
8,272
8,272 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
8,272 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).
5,779 in the last 10 years · low confidence
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 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th 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.
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-30
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).
Uncertain / not reviewed (60)
- ctis·2025-523616-36-00·Authorised·Exploratory study evaluating the relevance of [68Ga]Ga-FAPI-46 for staging and identifying progressing patients with transthyretin cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524434-25-00·Authorised·"Contribution of 68Ga-FAPI-46 PET-CT in the initial staging of gastric cancers eligible for curative treatment" "FAPGASTRO"
skipped — LLM skipped (--skip-llm)
- ctis·2025-523971-46-00·Authorised·A single-arm, open-label, multi-centre, phase I/II first-in-human study evaluating the safety and clinical activity of QEL-005, an autologous CAR T-regulatory cell therapy treatment targeting CD19, in patients with diffuse cutaneous systemic sclerosis (dcSSc) and in patients with difficult to treat rheumatoid arthritis (D2TRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511977-31-01·Authorised·68Ga-FAPI-46 PET for Giant Cell Arteritis-Polymyalgia Rheumatica Spectrum Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524123-45-00·Authorised·Treatment of low-flow vascular malformations with bleomycin electrosclerotherapy (BEST)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523868-20-00·Authorised·Efficacy and safety of a novel dual pH-dependent delayed-release ColeseveLam for the trEatment of bile Acid diarrhoea: a Randomized, double-blind, parallel-group, placebo-controlled clinical trial - CLEAR
skipped — LLM skipped (--skip-llm)
- ctis·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-521603-46-00·Authorised·A study testing a new treatment called TK-6302 for the first time in people with advanced cancers that have a genetic marker called HLA-A02:01 and a tumour protein called PRAME.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519384-18-00·Authorised, recruiting·A Phase 2/3, Multicenter, Open-Label, Non-Randomized Study to Evaluate Diagnostic Performance of GEH300079 (68Ga) Injection Positron-Emission Tomography (PET)/Computed Tomography (CT) for Detection of Peritoneal Carcinomatosis (PC) in Patients with Colorectal, Gastric, Ovarian, or Pancreatic Cancers (PERISCOPE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522742-46-00·Authorised·CANIDIAP; CANagliflozin In DIAlysis Patients
skipped — LLM skipped (--skip-llm)
- ctis·2025-523476-23-00·Authorised·Tick-Borne Encephalitis (TBE) Remdesivir Efficacy Assessment Trial (TREAT) – A phase 2 proof-of-concept, national, multicenter, randomized, double-blind, placebo-controlled clinical study designed to evaluate the efficacy of remdesivir in adult patients hospitalized for TBE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524527-46-00·Cancelled·A single and multiple ascending dose study of topical ladarixin ophthalmic solution in healthy volunteers
skipped — LLM skipped (--skip-llm)
- ctis·2025-523032-39-00·Authorised·Improved baseline staging with 68Ga-FAPI-46 PET in non-small cell lung cancer – a pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522848-40-00·Authorised, ongoing·Impact of EXercise on quality of life of early breast cancer patients on treatment with adjuvant Aromatase Inhibitors with or without CDK4/6 inhibitors. "The EX-AI study"
skipped — LLM skipped (--skip-llm)
- ctis·2025-521217-46-00·Cancelled·Impact of influenza vaccination on nasal resident memory immune responses and respiratory peripheral memory immune responses - MUCOVAC 2
skipped — LLM skipped (--skip-llm)
- ctis·2025-522346-46-00·Authorised, ongoing·Study of Oral MC-1 for the Treatment of Patients with PNPO Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-521163-12-01·Authorised·The use of [68Ga]Ga-FAPI PET/MRI in assessing disease activity in patients with Graves’ orbitopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-520731-17-02·Authorised·68Ga-FAPI PET/CT imaging to assess pulmonary artery and right ventricle remodeling
SoFAPI study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518365-10-00·Authorised, ongoing·A PHASE III, RANDOMIZED, OPEN-LABEL STUDY EVALUATING THE EFFICACY AND SAFETY OF DIVARASIB AND PEMBROLIZUMAB VERSUS PEMBROLIZUMAB AND PEMETREXED AND CARBOPLATIN OR CISPLATIN IN PATIENTS WITH PREVIOUSLY UNTREATED, KRAS G12C-MUTATED, ADVANCED OR METASTATIC NON-SQUAMOUS NON-SMALL CELL LUNG CANCER
skipped — LLM skipped (--skip-llm)
- ctis·2024-514248-95-00·Authorised·A 52 week, randomized, double-blind, double dummy multinational, multicenter, active controlled, 2-arm parallel group trial comparing CHF 5993 100/6/12.5 µg pMDI (fixed combination of extrafine Beclomethasone Dipropionate plus Formoterol Fumarate plus Glycopyrronium Bromide) to Seretide® Evohaler® 125/25 µg pMDI (fixed combination of fluticasone propionate / salmeterol xinafoate) in adolescent subjects with asthma uncontrolled on medium doses of inhaled corticosteroids in combination with long acting ß2 agonists.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520037-76-00·Authorised, ongoing·INTERACT-FAPI: “The value of 68Ga-FAPI PET/CT for evaluating peritoneal treatment response.”
skipped — LLM skipped (--skip-llm)
- ctis·2024-517270-23-00·Authorised, ongoing·"Diagnostic value of 68Ga-FAPI-46 PET/CT in the initial work-up of pancreatic and biliary cancers eligible to a curative treatment" "FAPDIG"
skipped — LLM skipped (--skip-llm)
- ctis·2024-517987-46-00·Expired·A multicentre, randomised, double-blind, placebo-controlled, parallel-group trial to evaluate the efficacy and safety of BP1.4979 in adult patients with essential tremor
skipped — LLM skipped (--skip-llm)
- ctis·2025-521856-47-00·Authorised, ongoing·Treatment of Bile Acid Diarrhoea with Atorvastatin (BASTA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518908-46-00·Authorised·Use of [18F]FET PET-MRI to improve detection of pituitary adenomas in Cushing’s disease
skipped — LLM skipped (--skip-llm)
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 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency — check Associations / patient organisations on that page.
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") OR (MESH:"Adrenal Insufficiency, Congenital") OR ("CYP11A1" OR "CYP11A1 syndrome" OR "CYP11A1-related")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"
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; 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
- Publication count (8272) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:26:56.865Z