{"doi":"10.1210/jcemcr/luaf229","title":"Antibody-Positive Type 1 Diabetes in a Family With a Pathogenic <i>HNF1A</i>-MODY Variant and Variable Age of Onset","abstract":"Abstract Monogenic diabetes (MD) is a relatively rare and heterogeneous group of disorders caused by pathogenic single-gene variants or abnormalities resulting in hyperglycemia. MD represents approximately 3.5% of all diabetes cases diagnosed before age 35 years, though it is possible for MD to develop at later ages. MD diagnoses have implications for precision therapy and cascade genetic testing. A hallmark characteristic suggesting MD is a multigenerational family history of nonobese diabetes diagnosed before age 35 with an autosomal dominant inheritance. However, even with a known family history of genetically confirmed MD, it is possible for an individual within that family to have a different form of diabetes. Here, we present a case from the University of Chicago Monogenic Diabetes Registry of an individual with antibody-positive type 1 diabetes in a family with a history of a genetically confirmed known pathogenic HNF1A variant causing maturity-onset diabetes of the young (MODY) with variable age of onset in affected individuals. This family pedigree showcases that HNF1A-MODY can develop at any age and illustrates the importance of every individual receiving a thorough work-up for accurate diabetes classification, including obtaining antibody testing and genetic testing, when indicated, to provide optimal treatment and management.","journal":"JCEM Case Reports","year":2025,"id":577468,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9596,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1487014,"name":"Anisa M Dye","orcid":null,"position":1,"is_corresponding":false},{"id":729055,"name":"Balamurugan Kandasamy","orcid":null,"position":2,"is_corresponding":false},{"id":251699,"name":"Siri Atma W. Greeley","orcid":"0000-0002-0741-3567","position":3,"is_corresponding":false},{"id":728157,"name":"Rochelle N. Naylor","orcid":"0000-0003-1753-8328","position":4,"is_corresponding":false},{"id":230363,"name":"Louis H. Philipson","orcid":"0000-0002-2208-3607","position":5,"is_corresponding":false},{"id":1303528,"name":"Michael E. McCullough","orcid":"0009-0006-0470-4429","position":0,"is_corresponding":true}],"reference_count":10,"raw_metadata":null,"created_at":"2026-07-19T02:58:04.622308Z","pmid":"41064662","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}