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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Ogata, Tsutomu / Toppari, Jorma

IMPACT FACTOR 2017: 1.086

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Volume 30, Issue 10


MODY in Ukraine: genes, clinical phenotypes and treatment

Evgenia Globa / Nataliya Zelinska / Lenka Elblova
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
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/ Petra Dusatkova
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ondrej Cinek
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
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  • De Gruyter OnlineGoogle Scholar
/ Jan Lebl
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
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  • De Gruyter OnlineGoogle Scholar
/ Kevin Colclough / Sian Ellard / Stepanka Pruhova
  • Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2017-09-01 | DOI: https://doi.org/10.1515/jpem-2017-0075



Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members.


Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing.


A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%). HNF1A and HNF4A MODY were the most common subtypes, accounting for 9/15 of MODY cases. Eight patients with HNF1A or HNF4A MODY and inadequate glycemic control were successfully transferred to sulfonylureas. Median HbA1c decreased from 67 mmol/mol (range 58–69) to 47 mmol/mol (range 43–50) (8.3% [7.5–8.5] to 6.4% [6.1–6.7]) 3 months after transfer (p=0.006).


Genetic testing identified pathogenic HNF1A and HNF4A variants as the most common cause of MODY in Ukraine. Transfer to sulfonylureas substantially improved the glycemic control of these patients.

Keywords: MODY; monogenic diabetes; sulfonylurea; treatment; Ukraine


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About the article

Corresponding author: Dr. Evgenia Globa, Department of Pediatric Endocrinology, Ukrainian Center of Endocrine Surgery, Kyiv, Ukraine, Phone: +380685304041

Received: 2017-02-15

Accepted: 2017-07-24

Published Online: 2017-09-01

Published in Print: 2017-10-26

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: The study was supported by Ministry of Health, Czech Republic - Conceptual Development of Research Organization, Motol University Hospital, Prague, Czech Republic 00064203/6001. A special thanks to the Danish-Ukraine Club. SE is supported by a Wellcome Trust Senior Investigator award.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 10, Pages 1095–1103, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2017-0075.

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