Endocrine Abstracts

The basics of molecular genetics are reviewed with emphasis on introducing terminology frequently encountered in genetic lab results and in lectures focusing on the genetic origins of disease. Mutations thought to be associated with various phenotypical features of Turner syndrome are identified. Specific examples of genetic test results revealing Turner syndrome are reviewed. The new molecular testing available for diagnosing Turner syndrome is presented. Applications to the role of the endocrine nurse are provided.

Objectives: After attending this presentation, attendees will be able to:

1. Describe the possible molecular mechanisms responsible for the TS karyotype.

2. Identify mutations thought to be associated with physical features of TS.

3. Discuss diagnostic testing options for TS.

4. Differentiate between the role of a genetic counselor and a genetics/endocrine nurse in caring for a patient with TS.