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Topics 16 January 2014
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14
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EMQ. Turner’s syndrome.
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57
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A 30-year-old
woman with thalassaemia major attends for pre-pregnancy counselling.
1. Justify the history you will take. 4
marks
2. Detail the investigations you will arrange. 6
marks
3. Outline the issues you will discuss in relation to
risks of pregnancy. 5 marks
4 Outline the management of pregnancy in cases of thalassaemia major.
5 marks
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58
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Critically
evaluate palliative treatment in gynaecological oncology.
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59
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You are the SpR
in the antenatal clinic. The consultant is absent due to illness and no other
consultant is available. A midwife asks you to see a woman whose scan has
shown anencephaly.
1. What steps will you take before seeing the
woman? 6 marks
2. Justify the approach you will use during the
interview. 10 marks
3. What will you do when the interview is over? 4 marks
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60
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A 25 year-old
woman books at 8 weeks. She has one child, aged 3 years. He has recently had
chickenpox diagnosed. Her sister is 38 weeks pregnant.
1. Justify your
initial management. 8
marks.
2. Justify your
management for the rest of the pregnancy.
8 marks.
3. Justify the
advice you will give with regard to her sister. 4 marks.
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61
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A 53-year-old
woman is referred by her GP. She wishes to discuss HRT. She is recovering
well from treatment for endometrial cancer.
1. Outline the history you will take. 4 marks
2. Justify the investigations you will arrange.
2 marks
3. Critically evaluate your management. 14 marks
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Turner’s
syndrome.
This is supposed
to be an EMQ, but some of the questions are MCQ with “True” and “False”
answers, so I have put these in the answer list. But it includes everything I
think you might be asked about Turner’s.
Option list
1 in 500
1 in 1,000
1 in 1,500
1 in 2,000
1 in 2,500
1 in 3,000
1 in 10,000
1 in 50,000
0%
0.1%
1 %
2%
5%
10%
15%
20%
25%
30%
40%
50%
60%
70%
80%
90%
> 90%
Most common
2nd.
most common
True
False
Answer not on
this option list.
Questions.
1. TS
is due to 45XO.
2. What
is the incidence of TS?
3. The
incidence of TS rises with maternal age?
.
4. Most
cases of TS are due to loss of a paternal chromosome.
5. How
common in monosomy X in TS?
6. How
common is monosomy Y in TS?
7. What
% of miscarriages are due to TS?
8. What
% of TS pregnancies miscarry?
9. ↑
NT is a feature of TS
10. ↑
NT is a feature of congenital heart disease
11. Low
birth weight is a feature of TS. .
12. If
TS is suspected, but the neonate’s karyotype from blood testing is normal, the
diagnosis is Noonan’s syndrome. .
13. Neonates
are at normal risk of developmental dysplasia of the hip.
14. Immune
hydrops is more common in TS.
15. Cystic
hygroma is more common in TS.
16. What
is the approximate risk of malignancy if there is XY mosaicism in TS?
17. How
common is webbing of the neck in TS?
18. How
common is a low occipital hairline in TS?
19. How
common is congenital heart disease in TS?
20. Dissecting
aortic aneurysm is more common in TS.
21. How
common is lymphoedema in TS?
22. How
common is kidney disease in TS?
23. Short
stature in TS has been linked to the TS gene.
24. What
% of adolescents with TS have scoliosis. .
25. Inverted
nipples are more common in TS.
26. 1ry.
amenorrhoea occurs in all cases.
27. Adrenarche
occurs at a normal time.
28. Cubitus
valgus is more common in TS.
29. Cleft
palate if a feature of TS.
30. Micrognathia
is a feature of TS.
31. Abnormalities
of teeth and nails are more common in TS.
32. Otitis
media is more common in TS.
33. Intelligence
is usually lower in TS, especially verbal skills.
34. Women
with TS have higher mortality rates than other women..
35. Oestrogen
should be started on diagnosis to promote bone growth. .
36. Oestrogen-only
HRT is appropriate for bone protection.
37. Women
with TS have an ↑ risk of hypertension.
38. Women
with TS have an ↑ risk of coeliac disease.
39. Women
with TS have an increased risk of Crohn’s disease and ulcerative colitis.
40. Women
with TS have an ↑ risk of diabetes
41. Women
with TS have an ↑ risk of hyperthyroidism.
42. Women
with TS have an ↑ risk of deafness. .
43. Women
with TS have an ↑ risk of osteoporosis.
44. Women
with TS have similar rates of red-green colour blindness to men.
45. Women
with TS have a normal incidence of ptosis.
46. Women
with TS cannot have children.
47. The
“short stature homeobox” (SHOX) gene has been implicated in TS
