Rare & Orphan Lab · DeCure for X

DeCure for Persistent Mullerian duct syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for persistent Mullerian duct syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module2 genesLead labRare & Orphan
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Rare & OrphanDOID:0050791$DeCureRare

The disease map

Disease modulePersistent Mullerian duct syndrome maps to a 2-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 persistent mullerian duct 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

anti-Mullerian hormone receptor type 2 (AMHR2)AMHR2 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 apo structuredrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 7L0J · 2.6 Å · ligand none (apo structure). Experimental structure, not a prediction.

What the evidence adds up to

Persistent Müllerian duct syndrome (PMDS) is a rare congenital disorder in which a phenotypically male individual retains Müllerian structures (uterus, fallopian tubes, upper vagina) because the Müllerian inhibiting substance system failed during fetal development. It is usually found incidentally during surgery for undescended testes or inguinal hernia repair. A 2014 case report describes a 14-year-old male with bilateral undescended testes in whom intraoperative findings included an infantile uterus and fallopian tubes. A 2020 case report describes a 26-year-old male who presented with long-standing abdominal pain and was found to have bilateral undescended testes fixed in the para-iliac region relative to the uterus, a rare female-type PMDS. In that case the Müllerian remnants were resected to avoid malignant transformation. A 2024 case report adds that radiological evaluation with ultrasound, MRI, or CT is used to confirm the presence of Müllerian structures.

No drug treatment is mentioned in any of these abstracts. Management is surgical: orchidopexy for the undescended testes and resection of Müllerian remnants to reduce the risk of malignant change. The 2020 report states that early diagnosis of PMDS in any patient with undescended testes has direct effects on outcome and prognosis, but no quantitative data on survival, response rates, or sample sizes are provided in any of the three reports. Each is a single case report.

The abstracts do not report any controlled trials, any drug intervention, or any comparative outcome data. What is missing is any prospective study, any patient cohort larger than single cases, any standardised surgical protocol tested against alternatives, and any long-term follow-up data on fertility or cancer incidence after remnant resection. No drug repurposing opportunity is suggested by the available evidence.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

International Journal of Applied and Basic Medical Research · 2014 · 17 citations · open access

Persistent mullerian duct syndrome: A case report and review of the literature

AbstractPersistent mullerian duct syndrome (PMDS) is usually an accidental finding either during orchipexy or during routine inguinal hernia repair in male patients presenting with maldescended or crytorchid testes. It is caused by a defect in the mullerian inhibiting substance system. Intraoperatively, mullerian remnants consisting of an infantile uterus and fallopian tubes are usually found. Familiarity with PMDS is necessary to diagnose the condition. We report a case of PMDS in a 14-year-old male presenting with bilateral undescended testes.

https://doi.org/10.4103/2229-516x.136805
International Journal of Surgery Case Reports · 2020 · 4 citations · open access

Female form of persistent Müllerian duct syndrome

AbstractINTRODUCTION: Persistent Müllerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism characterized by the presence of rudimentary Müllerian structures in a virilized male often presenting as undescended testes. Thus, each patient diagnosed with undescended testes should promptly be investigated for PMDS because the early diagnosis has direct effects on outcome and prognosis. CASE REPORT: A 26-year-old-male complained of long-standing abdominal pain two years ago and was diagnosed having bilateral undescended testes in the pelvic region. He underwent the orchidopexy about one year ago but, after 5 months of orchidopexy, he first complained of discomfort in the left and then right inguinal region due to an incisional hernia that presumed to have the ovotesticular disorder of sexual development. On the pelvic MRI exam, the Müllerian duct structures were observed and he was diagnosed as having PMDS. DISCUSSION: In this case the patient had bilateral cryptorchidism with testes fixed in the para iliac region with respect to the uterus, indicating the female type of PMDS which is a rare type of PMDS. The case is proven genetically and Müllerian duct remnants have been resected to avoid malignant transformation. CONCLUSION: Persistent Mullerian duct syndrome (PMDS) is a rare finding and may present as long-standing abdominal pain. Each patient diagnosed with undescended testes should promptly be investigated for PMDS. Diagnosis and management aim to preserve fertility and prevent malignant changes. Therefore, familiarity with this rare condition will lead to adequate management and prevention of complications.

https://doi.org/10.1016/j.ijscr.2020.10.113
Case Reports in Clinical Radiology · 2024 · 3 citations · open access

A rare case of persistent mullerian duct syndrome with adenocarcinoma of ascending colon

AbstractPersistent mullerian duct syndrome (PMDS) is a rare congenital disorder. This condition results from a failure of Mullerian duct regression during fetal development, leading to the presence of uterus, fallopian tubes, and upper vagina in otherwise phenotypically male individuals. Radiological evaluation plays a crucial role in the diagnosis and management of PMDS. Various imaging modalities including ultrasound, magnetic resonance imaging, and computed tomography are employed to visualize and confirm the presence of Mullerian structures in affected individuals.

https://doi.org/10.25259/crcr_190_2023

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.