Kallmann Syndrome and Anosmia

[MudPhud20XX]

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I was going over Firecracker and noticed that Kallman syndrome is also associated with anosmia. Does this have to do with something with lack of GnRH secretion? Perhaps not important to know the reason for the board but I feel like it will help me recall "anosmia" in Kallman. Many thanks!

• Functional absence of GnRH secretion from neurons or defect at the level of GnRH receptors results in hypogonadism; when associated with anosmia the condition is called “Kallmann Syndrome”
  

 

[swoopyswoop]

GnRH neurons originate in the olfactory placode. So you get no GnRH neurons, and a faulty development of the olfactory placed which causes anosmia.

 

[alicealicealice]

A testable point as swoopy mentioned is that Kallman's is a failure of cell migration. So they can correlate its pathogenesis to other unrelated defects, such as Hirschsprung's or lissencephaly.

 

[Miracoli]

what are the gene mutations involved in kallman sd?

 

[Phloston]

Kallman syndrome is X-linked.

For Step1, all you need to know: X-linked, anosmia, tertiary hypogonadism (decreased GnRH); failure of cell migration.

For Step2CK: X-linked, anosmia, tertiary hypogonadism, renal insufficiency in 50% of patients (i.e., what other investigations would you carry out in this patient? --> renal function).

 

[swoopyswoop]

Kallman syndrome mutations: KAL-1 and FGFR-1

 

[Miracoli]

yes KAL-1 and FGFR-1. This is fair game for step🙂

 

[Phloston]

yes KAL-1 and FGFR-1. This is fair game for step🙂

I'd bet my career and life by hanging that that would never show up on Step1.

 

[Miracoli]

I'd bet my career and life by hanging that that would never show up on Step1.

why?

 

[ChessMaster3000]

I'd bet my career and life by hanging that that would never show up on Step1.

I agree, they wouldnt show up. there's no educational value in that--sure Step 1 tests minutiae, but not that kind of minutiae.

 

[swoopyswoop]

Well, you'd hope so. but I got that info from a UWorld answer explanation I just did. That said, it wasn't related at all to being able to answer the question.

 

[Transposony]

why?

Vegemite

 

[Miracoli]

Vegemite

VEgemiTE???????