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Open Access 01-12-2023 | Insulins | Case report

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Authors: Guillermo Edinson Guzmán, Ithzayana Madariaga, Carlos Julio Vargas, Laura Ballen Galeano, Maria Angélica Guerra, Jose Antonio Nastasi

Published in: Journal of Medical Case Reports | Issue 1/2023

Abstract

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.

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Title: Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report
Authors: Guillermo Edinson Guzmán
Ithzayana Madariaga
Carlos Julio Vargas
Laura Ballen Galeano
Maria Angélica Guerra
Jose Antonio Nastasi
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Insulins
Maturity-Onset Diabetes of the Young
Insulins
Published in: Journal of Medical Case Reports / Issue 1/2023
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-023-03873-6

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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