ORPHA:90797
Partial androgen insensitivity syndrome
Also known as: PAIS · Partial androgen resistance syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
1,736
Trials
0
Interventional, condition-specific
Researchers
1,147
Distinct authors in sample
Gene link
AR
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
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:0010720
- MeSH:C538435
- OMIM:307300
- OMIM:312100
- OMIM:312300
- UMLS:C0268301
- NCIT:C120192
Additional Mondo synonyms (9)
Reifenstein syndrome · Reifenstein syndrome, partial · androgen insensitivity, partial · androgen insensitivity, partial, with or without breast cancer · androgen insensitivity, partial, with or without breast cancer, X-linked recessive · familial incomplete Male pseudohermaphroditism, type 1 · pais · partial androgen resistance syndrome · pseudohermaphroditism, incomplete male, type I
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — AR
- LiteraturePresent
1,736 matched papers (1,032 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?
Yes — we know a specific gene responsible (AR).
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?
1,736
1,736 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.
1,736 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).
1,032 in the last 10 years · low confidence
Phrase hits: 1,736 · MeSH hits: 0
Who's working on it?
1,147
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.
- 01Guerra-Junior G5 papers · 2025
Interdisciplinary Group for Study of Sex Determination and Differentiation (GIEDDS), School of Medicine, State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
Papers in Europe PMC - 02Holterhus PM5 papers · 2026
Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, Kiel, Germany.
Papers in Europe PMC - 03Liu Y5 papers · 2025
Department of Paediatrics, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, People's Republic of China.
Papers in Europe PMC - 04Chen Y4 papers · 2026
Department of Paediatrics, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, People's Republic of China.
Papers in Europe PMC - 05Guaragna-Filho G4 papers · 2023
Interdisciplinary Group for Study of Sex Determination and Differentiation (GIEDDS), Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), School of Medicine, State University of Campinas (UNICAMP),R. Tessalia Vieira de Camargo, 126, Campinas, São Paulo 13083-887, Brazil.
Papers in Europe PMC - 06Wang X4 papers · 2026
Ultrasound Department, Tongji Hospital, Tongji University School of Medicine, Shanghai, 200065, China.
Papers in Europe PMC - 07Zhang Y4 papers · 2026
Guangdong Provincial Key Laboratory of Synthetic Genomics, Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, Guangdong 518055, P.R. China.
Papers in Europe PMC - 08Ahmed SF3 papers · 2025
Office for Rare Conditions, University of Glasgow, Glasgow, UK.
Papers in Europe PMC - 09Bryce J3 papers · 2025
Office for Rare Conditions, University of Glasgow, Glasgow, UK.
Papers in Europe PMC - 10Hiort O3 papers · 2025
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
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.
low 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 2026-07-26Directly 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.
"Partial androgen insensitivity syndrome" OR "Partial androgen resistance syndrome" OR "Reifenstein syndrome" OR "Reifenstein syndrome, partial" OR "androgen insensitivity, partial" OR "androgen insensitivity, partial, with or without breast cancer" OR "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" OR "familial incomplete Male pseudohermaphroditism, type 1" OR "pseudohermaphroditism, incomplete male, type I"
MeSH descriptor terms unioned into the query: Lubs syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Partial androgen insensitivity syndrome" OR "Partial androgen resistance syndrome" OR "Reifenstein syndrome" OR "Reifenstein syndrome, partial" OR "androgen insensitivity, partial" OR "androgen insensitivity, partial, with or without breast cancer" OR "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" OR "familial incomplete Male pseudohermaphroditism, type 1" OR "pseudohermaphroditism, incomplete male, type I" OR "Lubs syndrome" OR "AR"
Recall-expansion terms: AR
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: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PAIS
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
- Publication count (1736) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:56:02.518Z