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Old 07-13-2011
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Question Delayed puberty and can't smell!

During physical check ups in a high school, a 17 year old boy was discovered to have delayed puberty. On further questioning, he said that he has no sense of smell for as long as he can remember. Further work ups would likely reveal?
a) Hypopituitarism
b) 5 alpha reductase deficiency
c) 17 alpha hydroxylase deficiency
d) Cryptorchidism
e) Androgen insensitivity
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Old 07-13-2011
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A) Kallmann's syndrome- mutation in KAL-1 gene. Decreased GnRH

The only clue they can give on the usmle is the sense of smell thing, so its pretty easy to associate.
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Old 07-13-2011
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the ans is A Kallaman's syndrome lack of migration of cells from olfactory palcodes to their site in pituitary so hypothalamic hypopitiutrism
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Old 07-13-2011
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Answer is A...kallman syndrome. Decreased muscle mass and strength. Delayed puberty due to hypogonadotropic hypogonadism. May or may not have congenital heart defect. Fat distribution over hip and chest. The GnRH neurons do not migrate properly from the olfactory placode to the hypothalamus during development. The olfactory bulbs also fail to form , leading to anosmia or hyposmia
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Old 07-13-2011
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Isnt hypopituitarism supposed to present with other symptoms of lack of pituitary hormones like dwarfism for growth hormone deficiency?
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Old 07-14-2011
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d) Cryptorchidism

because it is a developmental defect of hypothalamus and not pituitary.

Testosterone is required for testicular descend! so most likely option is Cryptorchidism........
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Old 07-14-2011
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For sure, that's Decrease GnRh, here we are talking about KallMan Syndrome ...

Again, the hint here is that the patient cant smell... Check FA page 486.
Ans is A.
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Old 07-14-2011
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Its D!! its only a hypo-gonadotrophin!!! not hypopituitarism
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Old 07-14-2011
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Smile Delayed puberty and can not smell

Ans is A, Hypopituitarism. Actually its from kallman syndrome
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Old 07-14-2011
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its kallman syndrome, A. cuz of loss of smell!
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Endocrine-, Pathology-, Step-1-Questions, Syndromes-Acronyms

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