DeCure for Partial androgen insensitivity syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for partial androgen insensitivity syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease modulePartial androgen insensitivity syndrome maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for partial androgen insensitivity syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
androgen receptor (AR) — AR is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet 1r,2rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5CJ6 · 2.07 Å · ligand 2-chloro-4-{[(1R,2R)-2-hydroxy-2-methylcyclopentyl]amino}-3-methylbenzonitrile (51Y). Experimental structure, not a prediction.
What the evidence adds up to
A 2025 case report describes Han Chinese twin girls, aged 18, with complete androgen insensitivity syndrome and discordant phenotypes. Both had a 46,XY karyotype, vagina and breasts, but no uterus or ovaries. One twin underwent bilateral gonadectomy and hormone replacement therapy; pathological diagnosis showed immature testicular tissue development. The authors state that continuing hormone replacement therapy after surgery is critical, and that patients' psychological difficulties should be addressed. No drug treatment for the syndrome itself is mentioned.
A 2023 case report describes a 13-year-old raised as female who presented with primary amenorrhea and was found to have partial androgen insensitivity syndrome. The authors state that early detection and gonad removal are necessary to mitigate cancer risk, and that corrective surgery and psychological support can be valuable. No drug treatment is discussed.
A 2021 case report describes a patient with clinically diagnosed partial androgen insensitivity syndrome who had no mutation in the androgen receptor gene. Whole genome sequencing revealed a heterozygous point mutation inherited from the mother in the FKBP4 gene, which encodes a positive modulator of androgen receptor gene transcription. The mutation was located in one of the three TPR repeats responsible for interaction with proteins essential for upregulation of AR transcription. This identifies FKBP4 as a novel candidate gene but does not report any therapeutic intervention.
What is still missing is any clinical trial of a drug for partial androgen insensitivity syndrome, any evidence that a drug can restore androgen sensitivity, and any patient stratification beyond single case reports. No funding source for such a trial is mentioned in these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Medical Case Reports · 2025 · 1 citations · open access
Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature
AbstractBACKGROUND: Complete androgen insensitivity syndrome is caused by inactivated mutations in the androgen receptor gene, which results in complete androgen resistance and a female phenotype with a 46,XY karyotype. This condition is rare in twins. CASE PRESENTATION: We report on a Han Chinese twin girl, aged 18 years, with the presence of a vagina and breasts but no uterus and ovaries and chromosomal karyotype analysis showing 46, XY, who was diagnosed with complete androgen insensitivity syndrome. The patient underwent bilateral gonadectomy and hormone replacement therapy, and pathological diagnosis showed immature testicular tissue development. CONCLUSION: In addition to rebuilding the external genitalia and preventing the emergence of gonadal tumors, continuing hormone replacement therapy after surgery is critical for the treatment of complete androgen insensitivity syndrome, and patients' psychological difficulties should be addressed.
International Journal of Reproduction Contraception Obstetrics and Gynecology · 2023 · 0 citations · open access
A case of partial androgen insensitivity syndrome with undescended testis and clitoromegaly
AbstractAndrogen insensitivity syndrome is a rare disorder of sex development that results from genetic mutations affecting the androgen receptor. Recently, we encountered a case of a 13-year-old individual who had been raised as female and sought medical attention for primary amenorrhea, which led to the discovery of partial androgen insensitivity syndrome. Early detection and gonad removal are necessary to mitigate the risk of cancer. Additional management steps such as corrective surgery and psychological support can also be valuable.
Yearbook of pediatric endocrinology · 2021 · 0 citations
The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome
AbstractThis case report describes a patient with clinically diagnosed partial androgen insensitivity syndrome (PAIS). However, no mutation in the androgen receptor gene was identified. Instead, whole genome sequencing revealed a heterozygous point mutation inherited from the mother in the FKBP4 gene. This gene is a positive modulator of AR gene transcription. The mutation was located in one of the three repeats (TPR) responsible for the interaction with several proteins essential for upregulation of AR transcription and thus activity.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
