Tutorial 16 January 2014

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Topics 16 January 2014

14	EMQ. Turner’s syndrome.
57	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
58	Critically evaluate palliative treatment in gynaecological oncology.
59	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
60	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.
61	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

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

2^nd. 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