Abstract
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.
| Translated title of the contribution | A monogenetic disorder instead of type 1 diabetes |
|---|---|
| Original language | Dutch |
| Article number | D7129 |
| Journal | Nederlands Tijdschrift voor Geneeskunde |
| Volume | 167 |
| Early online date | 19 Apr 2023 |
| Publication status | Published - Apr 2023 |
| Externally published | Yes |
Keywords
- Infant, Newborn
- Child
- Female
- Humans
- Adult
- Diabetes Mellitus, Type 1/diagnosis
- Diabetes Mellitus/therapy
- Insulin/therapeutic use
- Genetic Testing