1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Maturity onset diabetes of the young (MODY)

 

Clinical features

1. MODY is the diabetic state associated with abnormality of the function of beta cells (still produce some insulin).
2. The condition is frequently characterised by:
3. Onset of mild hyperglycaemia at an early age (generally before age 25 years)
4. No association with obesity
5. Non-ketotic disease
6. Affected individuals have impaired insulin secretion with minimal or no defect in insulin action.
7. There is variable severity and age of onset but symptoms usually are present before 25 years of age.

 

Genetics

1. Autosomal dominant pattern of inheritance.
2. There is a 1 in 2 risk for children of an affected parent.
3. Changes in 1 of 6 different genes have been identified that are associated with up to around 87% of the different forms of MODY. All play a crucial role in insulin production and insulin secretion.
4. Causative mutations have been identified in several MODY types.

 

Table 3

Some gene mutations and clinical features associated with MODY

 

Prevalence

1. MODY comprises 2 to 5% of the diabetic population, although MODY due to mutations in HNF-4α are
   considerably less common.

 

Investigations

1. Diagnostic genetic testing for MODY should be performed where it is going to change clinical management. This is likely to be in cases where there is uncertainty either in the diagnosis or in how a patient should be treated.
2. Genetic testing may be available in Australia with out-of-pocket expenses.
3. Predictive genetic testing for MODY may be available if the family specific mutation has been identified in
   an affected family member (see Contacts, support and testing). Such testing should only be considered
   after genetic counselling.
4. Refer to Genetics Services for counselling and genetic testing if appropriate (see Contacts, support and testing).

 

Management

1. The identification of the mutation can assist in guiding management.

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