DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for gonadal dysgenesis — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleGonadal dysgenesis maps to a 4-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 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
follicle stimulating hormone receptor (FSHR) — FSHR 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 clrdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8I2G · 2.8 Å · ligand CHOLESTEROL (CLR). Experimental structure, not a prediction.
What the evidence adds up to
A 1992 study compared adult height in published cases of XX gonadal dysgenesis (n=27) and XY gonadal dysgenesis (n=27). Mean adult height for XYGD patients was 171.0 cm (SD 7.8), significantly greater than the 164.4 cm (SD 7.7) for XXGD patients (p<0.01). The authors interpreted this as supporting a Y-specific growth gene acting independently of gonadal sex steroids.
A 2010 case series of three patients with gonadal dysgenesis (two with Swyer syndrome, one with mosaic Turner syndrome) identified three tumour subtypes: dysgerminoma, seminoma, and gonadoblastoma. The patients with dysgerminoma and seminoma had regular menses and no recurrent disease. The authors recommended prophylactic gonadectomy after diagnosis due to the probability of malignant transformation, and suggested hormone therapy for the patient with gonadoblastoma. A 2024 narrative review of mixed gonadal dysgenesis (45,X/46,XY karyotype) noted significant phenotypic heterogeneity, persistent Müllerian structures, and a wide spectrum of internal and external genitalia. The review, based on 50 included articles, emphasised that care is complex and should involve multidisciplinary decision-making with psychological support.
Two case reports describe successful pregnancy after fertility treatment in women with gonadal dysgenesis. A 2016 report documented a 36-year-old patient with 46,XY gonadal dysgenesis who achieved pregnancy and live birth using donor eggs, ICSI, and embryo transfer. A 2019 report described a woman with pure 46,XX gonadal dysgenesis and primary infertility who conceived following IVF with a donor oocyte. Both cases used hormone replacement therapy and assisted reproductive techniques.
What remains missing is prospective data on long-term outcomes for patients who undergo fertility treatment, standardised protocols for tumour surveillance and prophylactic surgery timing, and any trial that stratifies patients by karyotype or phenotype to guide management. No drug therapy is described 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.
Journal of Medical Genetics · 1992 · 53 citations · open access
Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).
AbstractAdult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171.0 cm (SD 7.8), n = 27) was significantly greater than that of XXGD patients (164.4 cm (7.7), n = 27) (p less than 0.01). This finding supports the existence of a Y specific growth gene(s) which promotes statural growth independently of the effects of gonadal sex steroids.
AbstractBACKGROUND: Gonadal dysgenesis encompasses a variety of sexual differentiation disorders. Within this population of patients, there is an increased risk of gonadal tumor formation. CASES: In this case series of three patients, two with Swyer's syndrome (complete gonadal dysgenesis) and one with mosaic Turner's syndrome, three separate histologic subtypes of tumors were identified: dysgerminoma, seminoma, and gonadoblastoma. The patients with dysgerminoma and seminoma had regular menses and were without recurrent disease. We recommend that the patient with gonadoblastoma start on hormone therapy. CONCLUSION: Once the diagnosis of gonadal dysgenesis is made, prophylactic gonadectomy should be performed owing to the probability of malignant transformation. These patients illustrate the potential different presentations with gonadal dysgenesis and the importance of complete evaluation of patients with primary amenorrhea.
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.
Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist
AbstractPURPOSE: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent. Persistent Müllerian structures are typical (eg, hemi-uterus). There is significant phenotypic heterogeneity of the internal and external genitalia that, together with different interpretations of the definition, have contributed to a poor understanding of the condition among pediatric urologists. Mixed gonadal dysgenesis is one manifestation of the 45,X/46,XY karyotype. 45,X/46,XY mosaicism can also be associated with typical female or male external genitalia. This review aims to clarify the mixed gonadal dysgenesis definition and to provide urologists with diagnostic and management considerations for affected individuals. MATERIALS AND METHODS: We searched 3 medical databases for articles related to mixed gonadal dysgenesis. Two hundred eighty-seven full-text abstracts and manuscripts were reviewed for content pertinent to: (1) clarifying the definition of mixed gonadal dysgenesis, and (2) describing the following related to the care of affected individuals: prenatal and neonatal evaluation and management, genital surgery, gonadal malignancy risk and management, fertility, gender dysphoria/incongruence, puberty and long-term outcomes, systemic comorbidities, and transitional care. RESULTS: Fifty articles were included. Key points and implications for each of the above topics were summarized. CONCLUSIONS: Mixed gonadal dysgenesis exists on a wide phenotypic spectrum and management considerations reflect this heterogeneity. Care for individuals with mixed gonadal dysgenesis is complex, and decisions should be made in a multidisciplinary setting with psychological support.
Geburtshilfe und Frauenheilkunde · 1990 · 8 citations
Maligner Keimzelltumor bei XY-Gonadendysgenesie (Swyer-Syndrom)
AbstractUNLABELLED: Case of a 20-year-old patient with severe abdominal pain, right adnexal mass, positive beta-HCG titre and free fluid in the abdominal cavity, as diagnosed by ultrasound. Laparotomy resulted in a ruptured ovarian tumour (chorionic carcinoma). Despite chemotherapy, the tumour developed fulminant metastases with a follow-up of 3 months. FINAL DIAGNOSIS: Gonadal dysgenesis, XY female type (Swyer-Syndrome).
Tropical Journal of Obstetrics and Gynaecology · 2019 · 1 citations · open access
Pregnancy following in-vitro fertilization and embryo transfer in a patient with gonadal dysgenesis
AbstractGonadal dysgenesis is a congenital condition in which there is gonadal dysfunction as a result of anomalies of sex chromosomes or mutations in the genes involved in the development of the indifferent embryonic gonads. It usually remains undiagnosed until when puberty fails to occur in patients. There is absence of development of female secondary sexual characteristics and primary amenorrhea. Infertility is an important manifestation of this condition, and this has a significant impact on the quality of the reproductive and family life of the patients, especially in areas where importance is placed on childbirth in marriages. This case is that of a woman with pure 46, XX gonadal dysgenesis with primary infertility who was able to achieve conception following IVF (in-vitro fertilization) with donor oocyte at our facility. This has helped to buttress the fact that with proper evaluation and effective application of hormone replacement therapy and assisted reproductive techniques, women with such cases can be helped to achieve conception and give birth.
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.
