Turner’s Syndrome

Question 1

What is Turner’s syndrome?

Answer 1

A genetic disorder that affects about 1 in 2200 females, it involves haveing into one complete X chromosome, the second X is either missing or incomplete

Question 2

When does the condition occur?

Answer 2

At conception, most conceptions occurring with 1 X chromosome missing end in miscarriage

Question 3

What are physical effects that occur after birth?

Answer 3

• Short stature
• Down slanting eyes
• Short, webbed neck
• Broad chest
• Lots of moles
• Organ abnormalities (kidney and heart)

Question 4

What is the main deficiency of TS?

Answer 4

Non functioning ovaries which results in girls not developing breasts during puberty, not having a period and being infertile

Question 5

What do one third of the girls typically have?

Answer 5

Changes during puberty and about 1 in 200 with the condition can get pregnant naturally and most will have a normal vagina and uterus and will enjoy a normal life

Question 6

What do treatments consist of?

Answer 6

Administering growth hormones, as well as oestrogen and progesterone which allow sufferers to live relatively normal lives

Question 7

What did Quigley do?

Answer 7

Have 123 girls with TS either oestrogen supplements or a placebo from 5 to 12

Question 8

What did Quigely find?

Answer 8

There was no difference in physical development between the 2 groups before the age 8.5 years but between 8.5 and 12 years those given oestrogen had earlier and greater breast development, though no other differences in puberty levels were noted

Question 9

What do these findings suggest?

Answer 9

Oestrogen supplements are beneficial between ages 8 and 12