Turner's syndrome (Atypical sex chromosome patterns)

Question 1

What is Turner’s syndrome?

Answer 1

A chromosomal condition that affects female development

Question 2

How many people does it affect and who is it named after?

Answer 2

Affects 1 in 2,200 females

Named after Dr Henry Turner who reported the syndrome in 1938

Question 3

What does Turner’s syndrome involve?

Answer 3

Having only one complete X chromosome in once cell - the second X chromosome is either missing or incomplete

Question 4

What does Turner’s syndrome often cause

Answer 4

1/10 miscarriages that occur in the first trimester is due to TS

Question 5

What is mosaic TS (MTS)?

Answer 5

Where one copy of the X chromosome is missing or incomplete in some but not all cells.

Question 6

When can Prenatally lymphedema occur?

Answer 6

When fluids leak into tissue causing swelling, particularly in the neck, hands and feet

Question 7

What are the physical affects of PL that occur after birth?

Answer 7

Short stature, down-slanting eyes, short-webbed neck, broad chest, lots of moles and organ abnormalities - commonly of the heart and kidneys

Question 8

What is the main deficiency of Turner’s?

Answer 8

Non-functioning ovaries which results in girls with TS not developing breasts during puberty, not having periods and being infertile.

Question 9

How many girls with TS function normally?

Answer 9

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

Question 10

What are some medical complications that can arise from TS?

Answer 10

Heart conditions, high blood pressure, urinary complaints, vision and hearing problems and osteoporosis

Question 11

What are the psychological problems?

Answer 11

Potential social adjustment problems due to physical appearance
A few girls have minor learning difficulties

Question 12

Who is TS not more common to?

Answer 12

Not more common in girls born to older women and is very rare to have a second child with TS

Question 13

How is Turner’s normally treated?

Answer 13

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

Question 14

What was Price et al’s research?

Answer 14

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

Question 15

What was Brown et al’s research?

Answer 15

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

Question 16

What was Hewitt et al’s research?

Answer 16

Reported that 30 pregnancies had resulted from cryopreservation (extraction and freezing of eggs) taken from females with TS but only if they were extracted from pre-pubertal girls. The progressive ovarian atresia (shrinking) that occurs with TS means that egg extraction does not result in successful pregnancies in most post-pubertal females. Therefore this enables most women to attain pregnancy and this has with it, enhanced psychological benefits. But from an ethical viewpoint, care must be taken to fully brief individuals and gaining consent

Question 17

What was Quigley et al’s research?

Answer 17

Gave 123 girls with TS (aged 5-12) oestrogen supplements or a placebo. There were no difference in physical developments between the two groups before 8.5 years but between 8.5 and 12 years those given the oestrogen had earlier and greater breast development compared with non TS girls. The findings suggest that oestrogen supplements are beneficial between the ages of 8 and 12

Question 18

How is research into KS and TS and therapies which may help justified?

Answer 18

They improve the quality and duration of the life of the sufferers
Research into them may lead to the development of effective gene therapies which may correct the conditions