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Updated: Aug 2, 2025

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
Published on: May 29, 2020
[A monogenetic disorder instead of type 1 diabetes]
Karin van der Tuin1,2, Linda S de Vries3, Judith J C C van den Reek4
1Leids Universitair Medisch Centrum, afd. Klinische Genetica, Leiden.
Background:
Transient Neonatal Diabetes Mellitus (TNDM) is a rare monogenetic disorder characterized by impaired insulin secretion occurring in the first weeks after birth. TNDM goes into remission after a few weeks to months. However, a large number of children develop non-insulin-dependent DM during puberty.
Case Description:
In this article we describe a woman who had been treated with insulin since early adulthood because of suspected type 1 diabetes (T1D). During the diagnostic process it became clear that she had been diagnosed with TNDM before. Additional genetic testing confirmed the diagnosis of 6q24-related TNDM. She successfully changed from insulin to oral (tolbutamide) treatment.
Conclusion:
It is important to pay attention to personal and family history in patients with suspected DM1. Diagnosing monogenic diabetes often has clinical consequences for the index patient as well as family members.
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