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Highlights MODY subtype 5 is caused by mutations in the HNF1B gene. MODY should be suspected in individuals who are lean and lack ethnic T2DM risk factors. Deletion syndrome has different phenotypic expressions based on the genes involved.

Background: Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus. The 17q12 deletion syndrome is a cause of maturity-onset diabetes of the young subtype 5 that should be considered. Case presentation: We present the case of a 35-year-old Hispanic female patient with a history of bicornuate uterus and polycystic renal disease that required kidney transplant. She had insulin-dependent diabetes, with her mother, maternal grandmother, and great-grandmother showing a similar clinical manifestation. Molecular analysis showed a deletion in chromosome 17q12 involving 15 genes, including HNF1B. Therefore, a diagnosis of deletion syndrome was made. Conclusions: The 17q12 deletion syndrome represents a rare genetic syndrome that involves different genes, including HNF1B. Principally, it is characterized by the combination of genitourinary tract malformations and diabetes mellitus, similar to our patient. Highlights: MODY subtype 5 is caused by mutations in the HNF1B gene. MODY should be suspected in individuals who are lean and lack ethnic T2DM risk factors. Deletion syndrome has different phenotypic expressions based on the genes involved. [ABSTRACT FROM AUTHOR]