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  #1  
Old 07-09-2011
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Kids 7 Year Old Boy with Accelerated Growth

A 7-yr-old Caucasian boy is brought by his mother to ur office coz of sudden acceleration of growth. His past medical history is insignificant. Physical exam reveals cystic acne involving face and upper shoulder, enlarged testis and penis and coarse pubic and axillary hair. His height corresponds to 98 percentile and his weight to 85 percentile for his age.
Which of the following is the most likely diagnosis
1) hypothalamic dysfunction
2) 21 hydroxylase deficiency
3) severe hypothyroid
4) abnormal karyotype 47, XXY
5) abnormal karyotype 47, XYY
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  #2  
Old 07-09-2011
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1 is hypothalamus? i m with 1 then...enlarged testis so no 21hydroxylase deficiency

if we do Lh/fsh shoul be > 1
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Old 07-09-2011
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yes surely it is 1 rest of all options are not relevant to the physical finding of the patient xxy usually have testicular atrophy and 21 hydroxylase with adrenal hyperplasia
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  #4  
Old 07-09-2011
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Default it is 2)

the answer given is as follows
correct answer is 2)21 hydroxylase deficiency. In patients who present with precocious pubarche, it is very important to differentiate between precocious puberty that is caused by premature activation of the hypoth-pituitary-gonad axis and precocious pseudo-puberty that is caused by gonadotrophin independent process, typically the excess of sex steroids. this pt presents with signs of severe androgen excess (cystic acne, significant growth spurt) which suggests precocious pseudo puberty. it is caused by late onset congenital adrenal hyperplasia
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  #5  
Old 07-09-2011
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wow, never noticed the cystic acne thing!
now i agree with CAH 21 hydroxylase deficiency

nice question
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  #6  
Old 07-11-2011
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Correct Answer

2) 21 hydroxylase deficiency

I like I like nice and straight fwd!!
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With Great Power Comes Great Responsibility...
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  #7  
Old 07-11-2011
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I thought the answer was abnormal karyotype 47 xyy but now i see the correlation
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  #8  
Old 07-11-2011
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thwe answer is (2) 21-hydroxylase dificiency.....
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