Turner's Syndrome

Exam Cram

• Turner's Syndrome is caused by the chromosome karyotype: XO

• Presentation: infertility in female, amenorrhea

• Examination: female birth & current, short, poor sexual development (reduced pubic hair & breast development)

• Diagnosis: chromosome karyotyping

Outline

Background 

• Not genetically inherited, occurs sporadically, 1/2000 births. 

• Associations

  • Bicuspid aortic valve

  • Coarctation

  • Aortic dissection

Assessment

History:

• Infertility

Examination:

• Short

• Female appearance: poor sexual development (reduced pubic hair & breast development)

• Ejection systolic murmur (bicuspid aortic valve)

• Hypertension

Investigations

• Genetic karyotyping - XO

• ECHO: aortic stenosis & aortic coarctation

Diagnosis

Diagnostic criteria: chromosome karyotyping

Management

Cardiovascular complications carry mortality

• ECHO- monitor bicuspid aortic valve  & aortic coarctation

References and Resources

Written in 2025