| Title : An unusual combination of latent autoimmune diabetes in young and maturity-onset diabetes in young - Bora_2026_JCEM.Case.Rep_4_luag158 |
| Author(s) : Bora A , Manasa CVS , Alekya LAV , Mashetty S , Guddeti A , Hari Kumar KVS |
| Ref : JCEM Case Rep , 4 :luag158 , 2026 |
|
Abstract :
Type 1 diabetes mellitus (T1DM) is the most common form of diabetes in young people, and the prevalence of type 2 diabetes mellitus (T2DM) is increasing due to obesity. Latent autoimmune diabetes in adults (LADA) typically presents after age 30, and these patients do not require insulin during the first 6 months after diagnosis. A similar clinical profile presenting before age 30 is known as latent autoimmune diabetes in young (LADY). Maturity-onset diabetes in young (MODY) is a monogenic form of diabetes classified into 14 subtypes based on the pathogenic gene variant and systemic manifestations. We present a 22-year-old woman who was incidentally found to have diabetes at age 18 and had a positive glutamic acid decarboxylase (GAD) antibody. She received oral hypoglycemic agents for the first 4 years and recently started insulin due to poor glycemic control. Whole exome sequencing revealed a heterozygous single-base pair deletion in exon 11 of the carboxyl ester lipase (CEL) gene (chr9:g.133071542del; c.2040del; p.Val681CysfsTer23), suggestive of CEL-MODY, also known as MODY 8. Our report highlights the unusual occurrence of double diabetes (LADY and MODY) in a young woman. |
| PubMedSearch : Bora_2026_JCEM.Case.Rep_4_luag158 |
| PubMedID: 42273279 |
| Gene_locus related to this paper: human-CEL |
| Mutation | V681CfsX23_human-CEL |
| Gene_locus | human-CEL |
| Disease | Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8 |
Bora A, Manasa CVS, Alekya LAV, Mashetty S, Guddeti A, Hari Kumar KVS (2026)
An unusual combination of latent autoimmune diabetes in young and maturity-onset diabetes in young
JCEM Case Rep
4 :luag158
Bora A, Manasa CVS, Alekya LAV, Mashetty S, Guddeti A, Hari Kumar KVS (2026)
JCEM Case Rep
4 :luag158