CASE REPORT article
Front. Med.
Sec. Family Medicine and Primary Care
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1590935
This article is part of the Research TopicUncommon or Rare Forms of Diabetes: From Diagnosis to ManagementView all articles
Beyond Type 1 Diabetes: A Case of Delayed MODY1 Diagnosis and Successful Transition to Sulfonylurea Therapy
Provisionally accepted
Chiara Gulisano1
Concetta Aloi2
Alessandro Salina2
Camilla Marazzi1
Giordano Spacco1
Serena Cappato3Renata Bocciardi3
Dario Iafusco4
Giacomo Tantari5
Giuseppe D'Annunzio5
Nicola Minuto5
Mohamad Maghnie1
Marta Bassi1*Francesca Faravelli6- 1Eye clinic, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Science, School of Medical and Pharmaceutical Sciences, University of Genoa, Genoa, Italy
- 2Labsiem, Pediatric Clinic, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genoa, Italy
- 3Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genova, Italy
- 4Regional Center for Pediatric Diabetes, Department of Pediatrics - University of the Study of Campania, Italy, Genova, Italy
- 5Pediatric Clinic, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genova, Italy
- 6Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genova, Italy
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Maturity-onset diabetes of the young (MODY) is a rare, genetically heterogeneous form of diabetes characterized by early-onset dysglycaemia, typically before 25 years of age, and autosomal dominant inheritance. Among the different forms of MODY, HNF4A-MODY (MODY1) is caused by mutations in the HNF4A gene, which encodes a transcription factor essential for glucose metabolism. Here, we describe a novel splicing variant in the HNF4A gene (c.319+1G>A) identified in a 15-yearold girl with non-ketoacidotic diabetes and a family history of diabetes. Initially diagnosed with Type 1 diabetes (T1D), she required low insulin doses and displayed negative autoimmune markers. Genetic testing revealed the heterozygous variant inherited from her father and functional studies confirmed the variant's impact on splicing. Following the diagnosis of HNF4A-MODY, the patient's treatment was switched from insulin to sulfonylureas, resulting in improved glycaemic control and time in range, along with an improved quality of life. The report highlights the importance of considering MODY in young patients with diabetes who lack typical T1D characteristics and the
Keywords: MODY, HNF4A-MODY, MODY1, Diabetes Mellitus, continuous glucose monitoring (CGM), sulfonylureas
Received: 10 Mar 2025; Accepted: 17 Apr 2025.
Copyright: © 2025 Gulisano, Aloi, Salina, Marazzi, Spacco, Cappato, Bocciardi, Iafusco, Tantari, D'Annunzio, Minuto, Maghnie, Bassi and Faravelli. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Marta Bassi, Eye clinic, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Science, School of Medical and Pharmaceutical Sciences, University of Genoa, Genoa, Italy
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