Genetics - Klinefelter & Turner Syndrome Flashcards
What is Klinefelter Syndrome?
Additional X chromosome in men
47XXY
Rarely can be 48XXXY or 49XXXXY
What are the features of Klinefelter Syndrome?
Appear as normal until puberty
- Tall
- Wide hips
- Gynaecomastia
- Weaker muscles
- Testicular atrophy
- Reduced libido
- Shyness
- Infertility
- Subtle learning difficulties (affecting speech and language)
What are the management options for Klinefelter Syndrome?
- Testosterone injections
- Advanced IVF
- Breast reduction surgery
What MDT input is available for Klinefelter Syndrome?
SALT
Occupational therapy
Physiotherapy - to strengthen muscles
Educational support - dyslexia and other learning difficulties etc
What is the prognosis in Klinefelter Syndrome?
Life expectancy is close to normal
IVF can help with fertility
What are patients with Klinefelter Syndrome at increased risk of developing?
Breast cancer compared to other males
Osteoporosis
Diabetes
Anxiety and depression
What is Turner syndrome?
Female has single X chromosome
45XO
What are the features of Turner syndrome?
Short stature
Webbed neck
High arching palate
Downward sloping eyes with ptosis
Broad chest with widely spaced nipples
Cubitus valgus
Underdeveloped ovaries and reduced function
Late or incomplete puberty
Infertile
What is cubitus valgus?
Arm extended downward with palms facing forward
Angle of forearm at elbow is exaggerated
Angled away from body
What are the 3 key features of Turner Syndrome?
Short stature
Webbed neck
Widely spaced nipples
What conditions are associated with Turner Syndrome?
Recurrent otitis media
Recurrent UTI
Coarctation of aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various learning disabilities
How is Turner syndrome managed?
GH therapy to prevent short stature
Oestrogen and progesterone
Fertility treatment, increase chance of becoming pregnant
What does oestrogen and progesterone replacement do in Turner syndrome?
Help establish secondary female sex characteristics
Regular menstrual cycle
Prevent osteoporosis
What conditions need to be monitored in Turner syndrome?
Hypertension
Hypothyroidism
