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  #1  
Old 06-23-2011
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Question 17-Yr-Old with Turner Syndrome

A 17-year-old girl was diagnosed at age 14 with Turner syndrome and has responded well to exogenous hormone treatment. She is doing well in school but recently has had trouble with sports. She tells the physician that running leads to rapid fatigue, and recently she fell. A maternal great uncle died in his late 20s after spending almost a decade in a wheelchair, but the rest of her family history is unrevealing. What is the most likely cause of the patientís difficulties with physical activities?

A. Poor coordination; she should be advised to spend time each day practicing the activities that cause difficulty.
B. Hormone treatment; weight reduction through dietary control should be advised.
C. Poor shoe wear from hallux valgus; orthotics may be beneficial.
D. Primary muscle disorder; the patientís muscle enzyme levels should be checked.
E. Unstable hips due to short stature; strengthening exercises should be prescribed.
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  #2  
Old 06-23-2011
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This one is hard..
But i guess its B..
(maternal uncle hx is a distractor right?or does its actually related to it?)..
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  #3  
Old 06-23-2011
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Is it D? Not very sure though....
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  #4  
Old 06-23-2011
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aah! no clue! d?
i was thinking that the coarctation would be causing this, didnt see it on the options, lol...
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  #5  
Old 06-23-2011
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A. Poor coordination; she should be advised to spend time each day practicing the activities that cause difficulty.
B. Hormone treatment; weight reduction through dietary control should be advised.
C. Poor shoe wear from hallux valgus; orthotics may be beneficial.
D. Primary muscle disorder; the patientís muscle enzyme levels should be checked.
E. Unstable hips due to short stature; strengthening exercises should be prescribed.[/QUOTE]

i m guessing B.
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  #6  
Old 06-23-2011
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D is d answer
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  #7  
Old 06-23-2011
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Default D

The bit about her MATERNAL uncle dying in his 20s after 10 yrs in a wheelchair hints at it being Duchenne Muscular Dystrophy - which is X-linked recessive.

If the girl had been normal and inherited 2 X chromosomes, the normal one would have masked the effects of the mutant one.

But she didn't. Her genotype is (46,XO).

She only has ONE X chromosome - the one with a mutant allele.

She has both Turner Syndrome AND Duchenne Muscular Dystrophy.

Her mother must have been a heterozygous carrier for the mutant allele. Her uncle must have been homozygous, thus displaying the phenotype.

The answer is D.

Last edited by katch22; 06-23-2011 at 11:48 PM.
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  #8  
Old 06-24-2011
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Quote:
Originally Posted by katch22 View Post
The bit about her MATERNAL uncle dying in his 20s after 10 yrs in a wheelchair hints at it being Duchenne Muscular Dystrophy - which is X-linked recessive.

If the girl had been normal and inherited 2 X chromosomes, the normal one would have masked the effects of the mutant one.

But she didn't. Her genotype is (46,XO).

She only has ONE X chromosome - the one with a mutant allele.

She has both Turner Syndrome AND Duchenne Muscular Dystrophy.

Her mother must have been a heterozygous carrier for the mutant allele. Her uncle must have been homozygous, thus displaying the phenotype.

The answer is D.
Wow, I didn't even think of that
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  #9  
Old 06-24-2011
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Quote:
Originally Posted by bebix View Post
A 17-year-old girl was diagnosed at age 14 with Turner syndrome and has responded well to exogenous hormone treatment. She is doing well in school but recently has had trouble with sports. She tells the physician that running leads to rapid fatigue, and recently she fell. A maternal great uncle died in his late 20s after spending almost a decade in a wheelchair, but the rest of her family history is unrevealing. What is the most likely cause of the patientís difficulties with physical activities?

A. Poor coordination; she should be advised to spend time each day practicing the activities that cause difficulty.
B. Hormone treatment; weight reduction through dietary control should be advised.
C. Poor shoe wear from hallux valgus; orthotics may be beneficial.
D. Primary muscle disorder; the patientís muscle enzyme levels should be checked.
E. Unstable hips due to short stature; strengthening exercises should be prescribed.




B the hormone therapy would have caused it
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  #10  
Old 06-24-2011
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cccccccccccccc
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  #11  
Old 06-24-2011
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Correct Answer correct answer

Quote:
Originally Posted by katch22 View Post
The bit about her MATERNAL uncle dying in his 20s after 10 yrs in a wheelchair hints at it being Duchenne Muscular Dystrophy - which is X-linked recessive.

If the girl had been normal and inherited 2 X chromosomes, the normal one would have masked the effects of the mutant one.

But she didn't. Her genotype is (46,XO).

She only has ONE X chromosome - the one with a mutant allele.

She has both Turner Syndrome AND Duchenne Muscular Dystrophy.

Her mother must have been a heterozygous carrier for the mutant allele. Her uncle must have been homozygous, thus displaying the phenotype.

The answer is D.
Indeed...the correct answer is D

With an affected male relative on her motherís side (providing passage through an asymptomatic carrier), this girl may be developing Becker muscular dystrophy (a less severe form than Duchenne and consistent with the later age of onset). Other X-linked neurologic and muscular disorders also might be present in this unusual situation. Testing should show features of myopathy.
Most teens with Turner syndrome adapt to physical activities well with reasonable joint in- tegrity and coordination (choices A and E) and little likelihood of developing severe hallux valgus (choice C). Weight gain should not develop from carefully monitored hormone replacement (choice B).
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  #12  
Old 06-24-2011
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ppl who chose the wrong ans, need to read the qns!!

the KEY is the uncle

i came to conclusion that d was the ans, however i didnt consider x linked etc it was deduced by elimination.. thanks for explanation

remember READ the qns!! you often dont have to have all the knowledge in the world(like me) but u can eliminate the wrong ans!!

Peace
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  #13  
Old 06-24-2011
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Default Oh, right. Becker. Hehe

@bebix: And here I thought it was Duchenne. Hehe. Thanks! Now I know I won't forget this for the exam.

Happy studying, all!
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Nervous-System-, Pathology-, Step-1-Questions, Syndromes-Acronyms

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