DeCure for 46,XX testicular disorder of sex development
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for 46,XX testicular disorder of sex development — screening already-approved drugs against its 5-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 testicular disorder of sex development maps to a 5-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 testicular disorder of sex development 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 0 group B member 1 (NR0B1) — NR0B1 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 4RWV · 1.859 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
46,XX testicular disorder of sex development, also called XX male syndrome, is a rare condition with an incidence of 1 in 20,000 to 25,000 male newborns, representing about 2% of cases of male infertility. About 90% of individuals have a normal male phenotype at birth and are usually diagnosed after puberty because of hypogonadism, gynaecomastia, or infertility. In one adult patient diagnosed in clinic, primary hypogonadism was the presenting feature. In children with ambiguous external genitalia, gender assignment is inevitable and management is individualised and multidisciplinary, aiming for the best quality of life.
A 2018 case report describes an 18-month-old child, PA, diagnosed with 46,XX testicular DSD, whose parents decided to raise him as male. He had surgery for hypospadias correction, hormone injections, child growth monitoring, and psychological monitoring from the age of 6 months at Dr. Soetomo Hospital, Surabaya. A 2025 case report describes a 12-year-old female patient diagnosed with the same condition, and notes the stages of diagnostic search, treatment methods depending on age, and response to therapy. Both reports stress the need for constant monitoring by doctors to prescribe and correct conservative therapy, resolve surgical decisions, and improve quality of life.
No drug treatment is mentioned in any of these abstracts. The management described is surgical (hypospadias correction), hormonal (injections), and psychological support. There is no evidence of any drug being repurposed or tested for this condition. The abstracts do not report survival rates, response rates, or sample sizes beyond single cases.
What is missing is any clinical trial, any systematic study of drug interventions, and any data on long-term outcomes beyond individual case reports. There is no patient stratification, no standardised treatment protocol, and no funding for research into pharmacological therapies for this rare disorder.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Endocrinology research and practice. · 2013 · 6 citations · open access
46,XX Male Syndrome
AbstractABSTRACT 46, XX male syndrome – testicular disorder of sexual differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic.
Einstein (São Paulo) · 2011 · 3 citations · open access
XX testicular disorder of sex differentiation: case report
AbstractThe 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for hypoganadism, gynecomastia, and/or infertility. The authors present the report of an XX male with complete masculinization and infertility.
Case Report: Medical Aspect, Growth, and Quality of Life in Children with 46,XX Testicular Disorder of Sex Development (DSD)
Abstract46,XX testicular disorder of sexual development (DSD) is characterized by male phenotype with 46,XX karyotype. The incidence rate is 1:25,000 in male newborn. Infants with ambiguous external genitals will be confronted with issue of gender assigment and may result in a stressful condition in the parents. Since gender assignment is inevitable, several factors should be considered in DSD management. The management approach for children born with DSD is individualized and multidisciplinary. Gender assignment aims to facilitate the patient to obtain the best quality of life. Adaptation of children with 46,XX testicular DSD as a determinant of quality of life is also influenced by psychological and family conditions. The purpose of this report was to observe medical growth and development aspects of the child with 46,XX terticular DSD as indicated by the aspects of growth and development, and health related quality of life, as well as the influential aspects. PA, 18 months, was diagnosed with 46,XX testicular DSD. The patient routinely visited to endocrinology clinic, urologic surgery, and child psychiatry clinic from the age of 6 months. The parents decided to raise patient as male. The patient had undergone surgery for hypospadias correction, hormone injections, child growth monitoring, and psychological monitoring (medical records of Dr. Soetomo Hospital, Surabaya in 2015). Management should consider individual and multidiciplinary accompaniment of the patient and parents, the importance of group support, and follow-up to adulthood, as well as possible longterm outcomes that will occur in the future so that the patients and the parents need to be prepared.
Pan African Medical Journal · 2018 · 1 citations · open access
A case report: 46,XX ovotesticular DSD
AbstractOvotesticular disorder of sex development (ovotesticular DSD) is a very raredisorder in which an infant is born with the internal reproductive organs (gonads) of both sexes (female ovaries and male testes). The gonads can be any combination of ovary, testes or combined ovary and testes (ovotestes). This article aim to present a rare case of 46,XX ovotesticular disorder of sexual development (DSD) in a 14-year-old child.
Педиатрическая фармакология · 2025 · 0 citations · open access
46,XX Testicular Disorders of Sex Development: Case Report
AbstractBackground. The article presents a rare case report of sex development disorder (DSDs, 46-XX-male), demonstrating the need for timely diagnosis, conservative and surgical treatment, and emphasizes the importance of a multidisciplinary approach. Due to the low frequency of occurrence of this pathology at an early age, the description of a new case is of undoubted interest and scientific and practical significance. Case Repot. A case report of a 12-year-old female patient diagnosed with 46,XX testicular disorder of sex development is presented. The stages of the diagnostic search, treatment methods depending on age, course of the disease, and response to therapy are described. Conclusion. Patients diagnosed with disorders of sex development are recommended to be constantly monitored by doctors in order to prescribe and correct conservative therapy, resolve issues about surgical treatment methods, improve the quality of life and implement reproductive function.
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.
