{"id":3252,"date":"2026-09-04T10:35:34","date_gmt":"2026-09-04T07:35:34","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2026\/09\/04\/diabetes-of-young-onset\/"},"modified":"2026-09-04T17:24:33","modified_gmt":"2026-09-04T14:24:33","slug":"diabetes-of-young-onset","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2026\/09\/04\/diabetes-of-young-onset\/","title":{"rendered":"Diabetes of young onset (MODY) – a clinical caseand diagnostic and therapeutic approach"},"content":{"rendered":"\n

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\n\nT. Ruskov1<\/sup>, \nR. Savova2<\/sup>, \nN. Yaneva1,3<\/sup>, \nO. Slavcheva-Prodanova1,3<\/sup>, \nIv. Dimova3,4<\/sup>, \nM. Arshinkova1,3<\/sup>\n<\/strong>\n<\/p>\n\n

\n1<\/sup> Clinic of Pediatric Endocrinology and Metabolic Diseases, Specialized Hospital for Active Treatment of Children\u2019s Diseases \u201cProf. Ivan Mitev\u201d, Sofia
\n2<\/sup> Medical Center SARA, Sofia
\n3<\/sup> Medical University \u2013 Sofia
\n4<\/sup> Laboratory of Genomic Diagnostics, Sofia\n<\/p>\n\n\t\t<\/div>\n\t<\/div>\n\t\n\t\n\n

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Abstract<\/h2>\n\n\n\n

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is often underdiagnosed and misclassified as type 1 or type 2 diabetes. MODY is characterized by beta-cell dysfunction, absence of autoantibodies, and a positive family history. In this report, we present a patient with a seven-year history of diabetes, unusually low daily insulin requirements, and negative pancreatic islet autoantibodies. Genetic testing revealed heterozygosity for the pathogenic variant c.598C>T (p.Arg200Trp) in exon 3 of the HNF1A gene, which is associated with MODY type 3.<\/p>\n\n\n\n

Key words:<\/strong> monogenic diabetes, MODY 3, HNF1A<\/em><\/em><\/p>\n\n\n

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17.      Crowley MT, Ng N, Goulden E et al. Sulphonylurea efficacy and end\u2010organ outcomes in the management of HNF4A \u2010 MODY. Diabet Med. 2025;42:e70139. doi:10.1111\/dme.70139<\/p>\n\n\n\n

18.      Wu HX, Chu TY, Iqbal J et al. Response to Letter to the Editor From Hooper: \u201cCardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.\u201d J Clin Endocrinol Metab. 2024;109:e1416\u20137. doi:10.1210\/clinem\/dgad720<\/p>\n\n\n\n

19.      Steele AM, Shields BM, Wensley KJ et al. Prevalence of Vascular Complications Among Patients With Glucokinase Mutations and Prolonged, Mild Hyperglycemia. JAMA. 2014;311:279. doi:10.1001\/jama.2013.283980<\/p>\n\n\n

<\/div>\n\n\n\n

Address for correspondence:<\/strong><\/p>\n\n\n\n

Todor Ruskov <\/p>\n\n\n\n

Clinic of Pediatric Endocrinology and Metabolic Diseases, SBAL \u201cProf. Ivan Mitev\u201d –
Sofia <\/p>\n\n\n\n

Blvd. \u201cAcad. Ivan Evstatiev Geshov\u201d, 11 <\/p>\n\n\n\n

1606, Sofia<\/p>\n\n\n\n

e-mail: todor.e.ruskov@gmail.com<\/a><\/p>\n\n\n\n

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<\/p>\n","protected":false},"excerpt":{"rendered":"

T. Ruskov\u00b9, R. Savova\u00b2, N. Yaneva\u00b9\u02d2\u00b3, O. Slavcheva-Prodanova\u00b9\u02d2\u00b3, Iv. Dimova\u00b3\u02d2\u2074, M. Arshinkova\u00b9\u02d2\u00b3 ||| \u00b9 Clinic of Pediatric Endocrinology and Metabolic Diseases, Specialized Hospital for Active Treatment of Children\u2019s Diseases \u201cProf. Ivan Mitev\u201d, Sofia ||| \u00b2 Medical Center SARA, Sofia ||| \u00b3 Medical University \u2013 Sofia ||| \u2074 Laboratory of Genomic Diagnostics, Sofia<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_pediatria_doi":"10.66223\/pediatria.2026.3.009","footnotes":""},"categories":[1301,2684,3399,2679,1],"tags":[511,1095,3308,3316,3481,3482,3315,3483,3317,3307,3311,3314,3309,3313,1291],"class_list":["post-3252","post","type-post","status-publish","format-standard","hentry","category-articles","category-issue-3-2026","category-broj-3-2026","category-statii","tag-511","tag-1095","tag-diabetes-of-young-onset-mody-a-clinical-case-and-diagnostic-and-therapeutic-approach","tag-hnf1a","tag-mody-3","tag-monogenic-diabetes","tag-diabet-s-nachalo-v-mlada-vazrast-mody-klinichen-sluchaj-i-diagnostichno-terapevtichen-podhod","tag-m-arshinkova1","tag-monogenen-diabet","tag-o-slavcheva-prodanova1","tag-r-savova2","tag-t-ruskov1"],"_links":{"self":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/3252","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/comments?post=3252"}],"version-history":[{"count":3,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/3252\/revisions"}],"predecessor-version":[{"id":3260,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/3252\/revisions\/3260"}],"wp:attachment":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/media?parent=3252"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/categories?post=3252"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/tags?post=3252"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}