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 ...

Problem: Programs for adolescents with Turner syndrome (TS) are currently based on evidence derived from medical surveillance or parental and teacher perceptions. Little is known about how personal perceptions in this population influence behavior and psychosocial outcomes. Facing issues associated with puberty and young adulthood, such as body image, relationships, and careers, can be more challenging when living with TS.Framework: Unlike frameworks for...