DeCure for Hypothyroidism, congenital, nongoitrous, 8
DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for hypothyroidism, congenital, nongoitrous, 8 — 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 moduleHypothyroidism, congenital, nongoitrous, 8 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 hypothyroidism, congenital, nongoitrous, 8 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
transducin beta like 1 X-linked (TBL1X) — TBL1X 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 2XTC · 2.22 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Congenital hypothyroidism is one of the most common preventable causes of mental retardation, and neonatal screening programmes introduced in the mid-1970s have been very successful at preventing brain damage through early detection and treatment. Primary CH can result from abnormal thyroid gland formation (dysgenesis) or from defective thyroid hormone synthesis by a structurally normal gland (dyshormonogenesis). Thyroid dysgenesis accounts for roughly 85% of cases, but genetic defects are found in only a very low proportion of those patients. Dyshormonogenesis is less common but is usually a genetic condition with autosomal recessive inheritance. A 2018 review lists all known monogenetic causes of primary CH, including promising new candidate genes, and discusses alternative genetic mechanisms.
A 2012 study from Uberaba, Brazil, covering 88% of live-born children in a screening programme from 2001 to 2010, diagnosed CH in 16 children, giving an incidence of 1 in 2,017 live births. Etiological evaluation in 15 children found seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. The authors concluded that both the incidence of CH and the proportion of dyshormonogenesis as a cause were increased in that region, but noted that molecular studies are needed for a better definition of etiology.
A 2012 case report describes a 3-year-old boy diagnosed with CH as a newborn who was left untreated and subsequently experienced significant growth failure and developmental delay. The authors emphasise that consistent adherence to treatment is essential to prevent such complications, especially in infancy and early childhood.
What is still missing is a clear genetic diagnosis for most cases of thyroid dysgenesis, molecular studies to define etiology in populations with higher incidence, and consistent long-term follow-up data on treatment adherence and outcomes in affected children.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Disease in Childhood · 1992 · 11 citations · open access
Microfollicular thyroid adenoma and congenital goitrous hypothyroidism.
AbstractThree patients with congenital goitrous hypothyroidism are reported. They were treated with adequate thyroxine replacement and developed well defined microfollicular thyroid adenomas despite being euthyroid clinically and biochemically throughout their clinical course. Patients with congenital goitrous hypothyroidism appear to be at increased risk of developing thyroid adenoma in childhood despite the use of replacement thyroxine treatment in physiological doses.
AbstractCongenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). While thyroid dysgenesis is the most common form of CH, accounting for approximately 85% of cases, genetic defects are only found in a very low proportion of patients. On the other hand, thyroid dyshormonogenesis is less common, but is usually a genetic condition with autosomal recessive inheritance. In this review we provide an overview of all known monogenetic causes of primary CH, including promising new candidate genes. In addition, alternative genetic mechanisms are discussed.
Arquivos Brasileiros de Endocrinologia & Metabologia · 2012 · 8 citations · open access
Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects
AbstractOBJECTIVE: The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG. SUBJECTS AND METHODS: From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children. RESULTS: CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out. CONCLUSION: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.
Case Reports in Endocrinology · 2012 · 3 citations · open access
Effect of Prolonged Discontinuation of L-Thyroxine Replacement in a Child with Congenital Hypothyroidism
AbstractWhen diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.
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.
