Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Medicine International
Join Editorial Board Propose a Special Issue
Print ISSN: 2754-3242 Online ISSN: 2754-1304
Journal Cover
September-October 2025 Volume 5 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
September-October 2025 Volume 5 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Case Report Open Access

Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report

  • Authors:
    • Marta Rico-Rodríguez
    • Sandra Fuentes-Cantero
    • Marta Carolina García-Rivera
    • Gema María Varo-Sánchez
  • View Affiliations / Copyright

    Affiliations: Laboratory Medicine Department, Riotinto Hospital (Huelva North Health Management Area), 21660 Minas de Riotinto, Huelva, Spain
    Copyright: © Rico-Rodríguez et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Article Number: 61
    |
    Published online on: August 11, 2025
       https://doi.org/10.3892/mi.2025.260
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Maturity‑onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis. 17q12 deletion syndrome is a rare chromosomal abnormality, the signs and symptoms of which can vary widely among different patients, including those with MODY5. The present study reports the case of a 9‑year‑old patient with chromosomal 17q12 deletion syndrome identified by the de novo deletion of the 1.49 Mb segment in the 17q12 band of the HNF1B gene by genetic analysis. The patient presented with MODY5, a short stature and hypertransaminasemia as clinical features. The risk of inheritance of 17q12 deletion syndrome is ~50%, and genetic counseling is recommended for all patients who are suspected to have or are diagnosed with 17q12 deletion syndrome.
View Figures
View References

1 

Urakami T: Maturity-onset diabetes of the young (MODY): Current perspectives on diagnosis and treatment. Diabetes Metab Syndr Obes. 12:1047–1056. 2019.PubMed/NCBI View Article : Google Scholar

2 

Aarthy R, Aston-Mourney K, Mikocka-Walus A, Radha V, Amutha A, Anjana RM, Unnikrishnan R and Mohan V: Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY)-A review. J Diabetes Complications. 35(107640)2021.PubMed/NCBI View Article : Google Scholar

3 

Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT and Ellard S: Maturity-onset diabetes of the young (MODY): How many cases are we missing? Diabetologia. 53:2504–2508. 2010.PubMed/NCBI View Article : Google Scholar

4 

Siller AF, Tosur M, Relan S, Astudillo M, McKay S, Dabelea D and Redondo MJ: Challenges in the diagnosis of diabetes type in pediatrics. Pediatr Diabetes. 21:1064–1073. 2020.PubMed/NCBI View Article : Google Scholar

5 

Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C and Sunde L: 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Am J Med Genet Part A. 170:2934–2942. 2016.PubMed/NCBI View Article : Google Scholar

6 

Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, et al: ISPAD clinical practice consensus guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 19 (Suppl 27):S47–S63. 2018.PubMed/NCBI View Article : Google Scholar

7 

Edghill EL, Bingham C, Singerland AS, Minton JA, Noordam C, Ellard S and Hattersley AT: Hepatocyte nuclear factor-1beta mutations cause neonatal diabetes and intrauterine growth reduction: Support for a critical role of HNF-1beta in human pancreatic development. Diabet Med. 23:1301–1306. 2006.PubMed/NCBI View Article : Google Scholar

8 

Timsit J, Saint-Martin C, Dubois-Laforgue D and Bellanné-Chantelot C: Searching for maturity-onset diabetes of the young (MODY): When and what for? Can J Diabetes. 40:455–461. 2016.PubMed/NCBI View Article : Google Scholar

9 

Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, et al: Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 17:384–385. 1997.PubMed/NCBI View Article : Google Scholar

10 

Şimşek E, Çilingir O, Şimşek T, Kocagil S, Erzurumluoğlu Gökalp E, Demiral M and Binay C: Screening of mutations in maturity-onset diabetes of the young-related genes and RFX6 in children with autoantibody-negative type 1 diabetes mellitus. J Clin Res Pediatr Endocrinol. 16:137–145. 2024.PubMed/NCBI View Article : Google Scholar

11 

Barbacci E, Reber M, Ott MO, Breilat C, Huetz F and Cereghini S: Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development. 126:4795–4805. 1999.PubMed/NCBI View Article : Google Scholar

12 

Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, et al: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes. 54:3126–3132. 2005.PubMed/NCBI View Article : Google Scholar

13 

Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ and Hattersley AT: Mutation in the transcription factor hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet. 68:219–224. 2001.PubMed/NCBI View Article : Google Scholar

14 

McDonald TJ and Ellard S: Maturity onset diabetes of the young: Identification and diagnosis. Ann Clin Biochem. 50:403–415. 2013.PubMed/NCBI View Article : Google Scholar

15 

Velho G, Beilannéchantelot C and Timsit J: Clinical heterogeneity and clinical management of MODY. Different genes guiding different approaches? Endocrinol Nutr. (Ed Impr). 51 (Suppl 2):S22–S30. 2004.(In Spanish).

16 

Tosur M and Philipson LH: Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY). J Diabetes Investig. 13:1465–1471. 2022.PubMed/NCBI View Article : Google Scholar

17 

Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH and Martin CL: A17q12 recurrent deletion syndrome. In: GeneReviews® (Internet). Adam MP, Feldman J, Mirzaa GM, et al (eds). University of Washington, Seattle, WA, 1993.

Related Articles

  • Abstract
  • View
  • Download
Copy and paste a formatted citation
Spandidos Publications style
Rico-Rodríguez M, Fuentes-Cantero S, García-Rivera MC and Varo-Sánchez G: Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report. Med Int 5: 61, 2025.
APA
Rico-Rodríguez, M., Fuentes-Cantero, S., García-Rivera, M.C., & Varo-Sánchez, G. (2025). Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report. Medicine International, 5, 61. https://doi.org/10.3892/mi.2025.260
MLA
Rico-Rodríguez, M., Fuentes-Cantero, S., García-Rivera, M. C., Varo-Sánchez, G."Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report". Medicine International 5.5 (2025): 61.
Chicago
Rico-Rodríguez, M., Fuentes-Cantero, S., García-Rivera, M. C., Varo-Sánchez, G."Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report". Medicine International 5, no. 5 (2025): 61. https://doi.org/10.3892/mi.2025.260
Copy and paste a formatted citation
x
Spandidos Publications style
Rico-Rodríguez M, Fuentes-Cantero S, García-Rivera MC and Varo-Sánchez G: Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report. Med Int 5: 61, 2025.
APA
Rico-Rodríguez, M., Fuentes-Cantero, S., García-Rivera, M.C., & Varo-Sánchez, G. (2025). Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report. Medicine International, 5, 61. https://doi.org/10.3892/mi.2025.260
MLA
Rico-Rodríguez, M., Fuentes-Cantero, S., García-Rivera, M. C., Varo-Sánchez, G."Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report". Medicine International 5.5 (2025): 61.
Chicago
Rico-Rodríguez, M., Fuentes-Cantero, S., García-Rivera, M. C., Varo-Sánchez, G."Pediatric patient with maturity‑onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report". Medicine International 5, no. 5 (2025): 61. https://doi.org/10.3892/mi.2025.260
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team