ORPHA:99429
Complete androgen insensitivity syndrome
Also known as: CAIS · Complete androgen resistance syndrome
Publications
1,211
91.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,036
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.
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:0021023
- UMLS:C0936016
- NCIT:C120191
Additional Mondo synonyms (1)
complete androgen resistance 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,211 matched papers (665 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 trialPartial
None under the specific name; 1 for broader category androgen insensitivity syndrome
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
1,211
1,211 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,211 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).
665 in the last 10 years · medium confidence · 91.7th percentile (publications denominator)
Phrase hits: 1,211 · MeSH hits: 0
Who's working on it?
1,036
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.
- 01Hiort O5 papers · 2026
Division of Pediatric Endocrinology and Diabetes, Department of Pediatric and Adolescent Medicine, University of Lübeck, Lübeck, Germany. Olaf.Hiort@uksh.de.
Papers in Europe PMC - 02Gomez-Lobo V4 papers · 2026
Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute for Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 03Hirschberg AL4 papers · 2025
Department of Women's and Children's Health, Karolinska Institutet, and Department of Gynaecology and Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden.
Papers in Europe PMC - 04
- 05Sandberg DE4 papers · 2025
Susan B Meister Child Health and Evaluation Research Center, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Papers in Europe PMC - 06Tian Q4 papers · 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China. Electronic address: qinjietn@163.com.
Papers in Europe PMC - 07Batista RL3 papers · 2026
Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM-42), Division of Endocrinology, Department of Internal Medicine, University of São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 08Deng S3 papers · 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
Papers in Europe PMC - 09Holterhus PM3 papers · 2026
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital of Schleswig - Holstein, Campus Kiel/Christian - Albrechts University of Kiel, Kiel, Germany.
Papers in Europe PMC - 10Li P3 papers · 2023
Department of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China. lipin2019@126.com.
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). 1 trial are registered for androgen insensitivity syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched androgen insensitivity syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: androgen insensitivity syndrome
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04252001·NOT YET RECRUITING·Growing up With the Young Endocrine Support System (YESS!)
Conditions: Congenital Adrenal Hyperplasia · Hypogonadotropic Hypogonadism · Growth Hormone Deficiency · Combined Pituitary Hormone Deficiency·Matched via name phrase
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.
"Complete androgen insensitivity syndrome" OR "Complete androgen resistance syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Complete androgen insensitivity syndrome" OR "Complete androgen resistance syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"androgen insensitivity syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CAIS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T06:11:37.809Z