Turner's syndrome (Atypical sex chromosome patterns) Flashcards
What is Turner’s syndrome?
A chromosomal condition that affects female development
How many people does it affect and who is it named after?
Affects 1 in 2,200 females
Named after Dr Henry Turner who reported the syndrome in 1938
What does Turner’s syndrome involve?
Having only one complete X chromosome in once cell - the second X chromosome is either missing or incomplete
What does Turner’s syndrome often cause
1/10 miscarriages that occur in the first trimester is due to TS
What is mosaic TS (MTS)?
Where one copy of the X chromosome is missing or incomplete in some but not all cells.
When can Prenatally lymphedema occur?
When fluids leak into tissue causing swelling, particularly in the neck, hands and feet
What are the physical affects of PL that occur after birth?
Short stature, down-slanting eyes, short-webbed neck, broad chest, lots of moles and organ abnormalities - commonly of the heart and kidneys
What is the main deficiency of Turner’s?
Non-functioning ovaries which results in girls with TS not developing breasts during puberty, not having periods and being infertile.
How many girls with TS function normally?
1/13 have some typical changes during puberty and 1/200 can get pregnant naturally
Most will have a normal vagina and uterus so can enjoy a normal sex life
What are some medical complications that can arise from TS?
Heart conditions, high blood pressure, urinary complaints, vision and hearing problems and osteoporosis
What are the psychological problems?
Potential social adjustment problems due to physical appearance
A few girls have minor learning difficulties
Who is TS not more common to?
Not more common in girls born to older women and is very rare to have a second child with TS
How is Turner’s normally treated?
Consists of administering growth hormones as well as oestrogen and progesterone supplements which allows sufferers to live relatively normal lives with only a slight reduced life span
What was Price et al’s research?
Performed a longitudinal study for 17 years of 156 females with TS who survived infancy finding that 15 died in that time compared with an expected 3.5 deaths mated in non TS patients - the major causes of death were heart and circulatory conditions
What was Brown et al’s research?
Performed MRI scans on 26 girls with TS and 26 gender age match non TS girls finding that girls with TS had smaller posterior cerebral and cerebellar brain areas. This suggests that TS affects growth of certain areas of the brain which may be related to the developmental affects we see with this disorder