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ORPHA:99429

Complete androgen insensitivity syndrome

medium confidenceDisorder

Also known as: CAIS · Complete androgen resistance syndrome

Publications

1,211

85.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,036

Distinct authors in sample

Gene link

—

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,211 matched papers (665 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Increased circulating antimullerian hormone concentration; Elevated circulating luteinizing hormone level; Blind vagina) Source

  4. Animal modelPresent

    1 genotype model (Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

25

Associated phenotypes · MONDO:0021023

  • Increased circulating antimullerian hormone concentration
  • Elevated circulating luteinizing hormone level
  • Blind vagina
  • Anxiety
  • Delayed puberty

Showing 5 of 25 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

  • KH·RGD:2301330·Rattus norvegicus

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

3

Drugs / clinical candidates · MONDO_0021023

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

1,211 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).

665 in the last 10 years · medium confidence · 85.4th percentile (publications denominator)

Phrase hits: 1,211 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Hiort 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
  2. 02
    Gomez-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
  3. 03
    Hirschberg 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
  4. 04
    Lee PA4 papers · 2025

    Penn State College of Medicine, Hershey, PA, 17033, USA.

    Papers in Europe PMC
  5. 05
    Sandberg 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
  6. 06
    Tian 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
  7. 07
    Batista 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
  8. 08
    Deng 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
  9. 09
    Holterhus 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
  10. 10
    Li 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Complete androgen insensitivity syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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