Transient neonatal diabetes

Transient Neonatal Diabetes

Diagram of autosomal dominant inheritance, which is relevant for some genetic causes of TNDM.

Transient Neonatal Diabetes Mellitus (TNDM) is a rare form of diabetes that occurs in newborns. It is characterized by hyperglycemia that typically resolves within the first few months of life, although it may recur later in life. TNDM is distinct from Permanent Neonatal Diabetes Mellitus (PNDM), which does not resolve.

Causes

TNDM is often caused by genetic abnormalities. The most common genetic cause is an abnormality in the imprinting of chromosome 6q24. This can involve paternal uniparental disomy, duplication of the paternal allele, or loss of maternal methylation. Other genetic mutations, such as those affecting the KCNJ11 or ABCC8 genes, can also lead to TNDM.

Symptoms

Symptoms of TNDM include:

• Hyperglycemia
• Dehydration
• Failure to thrive
• Glycosuria

These symptoms typically appear within the first week of life.

Diagnosis

Diagnosis of TNDM is based on clinical presentation and laboratory tests showing elevated blood glucose levels. Genetic testing can confirm the diagnosis by identifying abnormalities in chromosome 6q24 or other related genetic mutations.

Treatment

Management of TNDM involves controlling blood glucose levels, often with insulin therapy. The condition usually resolves spontaneously within the first few months of life, but monitoring is essential to manage any recurrence of diabetes later in life.

Prognosis

The prognosis for infants with TNDM is generally good, as the condition resolves in most cases. However, there is a risk of developing type 2 diabetes or other forms of diabetes later in life, so long-term follow-up is recommended.

Related pages

• Neonatal diabetes mellitus
• Genetic imprinting
• Chromosome 6 (human)