HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports - Summary - MDSpire

HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports

  • By

  • Tânia Carvalho

  • Mariana Lavrador

  • Joana Saraiva

  • Leonor Gomes

  • June 11, 2026

  • 0 min

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Objective:

To describe two clinical cases of HNF1B-related MODY and highlight the associated systemic manifestations.

Approach:
    Key Findings:
    • MODY-5 accounts for <5% of MODY cases and is associated with renal abnormalities and genitourinary malformations.
    • The first patient maintained excellent metabolic control on metformin alone with no complications after four years.
    • The second patient experienced fluctuating glycemic control and had multiple systemic issues including CKD and infertility.
    Interpretation:

    The cases illustrate the broad phenotypic spectrum of MODY-5.

    Limitations:
    • The study is based on only two case reports, limiting generalizability.
    • Variability in clinical presentation may complicate diagnosis and management.
    Conclusion:

    The cases highlight the importance of considering HNF1B mutations in young-onset diabetes.

Original Source(s)

HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports

  • by Tânia Carvalho, Mariana Lavrador, Joana Saraiva, Leonor Gomes

  • June 11, 2026

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