DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for 46 XX gonadal dysgenesis — screening already-approved drugs against its 9-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease module46 XX gonadal dysgenesis maps to a 9-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 46 xx gonadal dysgenesis 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
nuclear receptor subfamily 5 group A member 1 (NR5A1) — NR5A1 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 2sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4QJR · 2.4 Å · ligand (2S)-3-{[(R)-{[(1S,2S,3R,4S,5S,6S)-2,6-dihydroxy-3,4,5-tris(phosphonooxy)cyclohexyl]oxy}(hydroxy)phosphoryl]oxy}propane
-1,2-diyl dihexadecanoate (PIZ). Experimental structure, not a prediction.
What the evidence adds up to
In a 2016 case report, a 36-year-old patient with 46,XY gonadal dysgenesis (Swyer syndrome) achieved a successful pregnancy and live birth after a tailored fertility programme using donor eggs and ICSI. The husband had normal sperm analysis. The interventions included chromosomal analysis, saline infusion sonography, Pipelle endometrial scratch, embryo transfer, and caesarean delivery. This is a single case, not a trial.
A 1984 case report describes a 17-year-old with 46,XY pure gonadal dysgenesis who had nearly complete female secondary sex development. She was found to have bilateral gonadoblastomas with dysgerminomatous change and was H-Y+ phenotype. After gonadectomy, sex steroid production decreased markedly. The authors note that neoplastic transformation is likely in H-Y+ cases of 46,XY gonadal dysgenesis. No survival or response rates are given; this is one patient.
A 2014 review of gonadal dysgenesis research in China discusses progress in diagnosis and therapy but does not report any new trial results, survival data, or response rates. It identifies problems and defects in the field without providing quantitative outcomes.
What is still missing: large prospective trials, standardised protocols for fertility treatment in these patients, systematic data on long-term cancer risk and management, and any drug therapy that alters the natural history of the condition. No drug is mentioned in any of 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.
Case Reports in Women s Health · 2016 · 22 citations · open access
Rare successful pregnancy in a patient with Swyer Syndrome
AbstractOBJECTIVE: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. DESIGN: Case report. SETTING: Herts & Essex Fertility Centre, Cheshunt, UK. PATIENTS: A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. INTERVENTIONS: Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICSI using donor eggs, Embryo Transfer, and Caesarean delivery. MAIN OUTCOME MEASURES: Successful pregnancy and live birth. RESULTS: Successful treatment with donor eggs, pregnancy, and delivery. CONCLUSIONS: A patient with 46, XY gonadal dysgenesis in a specially tailored fertility program, can maintain a normal pregnancy and delivery.
Complete Development of Secondary Sex Characteristics in a Case of 46,XY Pure Gonadal Dysgenesis
AbstractAlthough pubertal development is unusual in 46,XY gonadal dysgenesis, it may occur in association with gonadal tumors. The authors report a case of 46,XY gonadal dysgenesis in a 17-year-old girl remarkable for H-Y+ phenotype and bilateral gonadoblastomas accompanied by dysgerminomatous change and nearly complete female secondary sex development. Endocrinologic activity of the gonads was indicated by marked decrease in sex steroid production after gonadectomy. Occurrence of gonadal neoplasia in this case is consistent with the observation that neoplastic transformation is likely in H-Y+ cases of 46,XY gonadal dysgenesis.
AbstractIn recent years,the basal and clinical research in gonadal dysgenesis has achieved great progress.Considerable literatures concerning the diagnosis and therapy of these diseases have been published.In this review,we analyzed and summarized some more instructive literatures for clinical practice,discussed the problems and defects in gonadal dysgenesis research in China,and proposed some suggestions.
Key words:
Gonadal dysgenesis ; Hypogonadotropic hypogonadism; Congenital adrenal hyperplasia; Turner syndrome Precocious puberty
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.
