[drmodi44]

A 4-year-old girl has ambiguous genitalia. Laboratory studies show an increase in plasma adrenocorticotropic hormone, a decrease in serum cortisol, and an increase in urine 17-ketosteroids. Chromosome analysis shows an XX genotype. Which of the following findings is also expected in this patient?


A. Decreased 11-deoxycorticosterone
B. Hypertension
C. Hypogonadism
D. Sodium loss

 

[donofitaly]

C. Hypogonadism

 

[ashishkabir]

Isn't hypogonadism the same thing sort of as ambiguous genitalia?

 

[donofitaly]

Isn't hypogonadism the same thing sort of as ambiguous genitalia?

Yeah I was wondering the same, I actually started with the elimination of options but suddenly realized that the answer was right there.

 

[10toe]

The answer is B. Hypertension. This is most likely an 11-hydroxylase deficiency. There will be an increase in 11-deoxcorticosterone wich has mineralocorticoid properties and will act on the receptors of the distal tubules to retain salt and water.

 

[lee-usmle]

Tricky

That's a very nice and tricky question.
I wrote something about this about year ago, have a look here
http://www.usmle-forums.com/usmle-step-1-classic-clues/254-hypertension-adrenogenital-syndromes.html

 

[Mahbuba Labony]

Ambiguous genitalia & low corticosteroid level.

At first thanks for the question & to Lee for the information.
So,it is hypertension that can be found in that patient.

 

[sam01]

it can be either B or D.Both 11-B and 21-alpha hydroxylase deficiency have ambiguous genitalia and increase in 17-ketosteroids.I dont understand the question.I m really stuck here.Any help ,please?

 

[lee-usmle]

You are right

it can be either B or D.Both 11-B and 21-alpha hydroxylase deficiency have ambiguous genitalia and increase in 17-ketosteroids.I dont understand the question.I m really stuck here.Any help ,please?

You are definitely right! It's looks like there's an error in the question, let's see what khushboo has to say about this.

 

[evavar]

You are definitely right! It's looks like there's an error in the question, let's see what khushboo has to say about this.

How about answer A. Remember that 21 hydroxylase deficiency is the most common form of the enzymatic deficiencies in adrenal pathology. It will produce female psedohermaprhoditism, decreased cortisol and increase levels of ACTH. And will block the synthesis of 11DOC.

 

[lee-usmle]

Also right!

How about answer A. Remember that 21 hydroxylase deficiency is the most common form of the enzymatic deficiencies in adrenal pathology. It will produce female psedohermaprhoditism, decreased cortisol and increase levels of ACTH. And will block the synthesis of 11DOC.

Yes, you are right!
I think the question is defective!

 

[syed]

yes question seems deffective........ as both 11 and 21 hydroxylase deficiency causes ambiguous genitalia...... so both A and D can be correct ansrs...

 

[10toe]

Yes the question is defective. Here is a nice chart showing the adrenal steroidogenesis pathway. Remember that everything upstream of the defective enzyme will back up and shift everything else to the right (11-OH, 21-OH) or to the left (17-OH)


click to enlarge

 

[drmodi44]

Q is defective

well ya i also think Q is defective....thats y i posted here...
consult says pt has 11-hydroxylase deficiency...and ans is B hypertension....but y 11-hydroxylase..shouldn't it be 21 hydroxylase as it is most common..?? that is not explained....

well it also says that only 1/3 of pt with 21 hydroxylase deficiency persent with sodium loss...reason behind is also not explained...

 

[shaan.medico]

shaan

hey this question is not defective,
this is a case of 11 b hydroxylase def... and the answer is B hypertention..

yes u ppl are right that ambigous genitalia and high steroids level are caused by both 11 b and 21 a hydroxylase, bt i can prove it that its not 21 a hydroxylase def,

see if it is 21 a hydroxylase def then both decr in 11 deoxycortisone level and loss of Na shud be right, as two options cant be right then it is NOT a 21 a hydroxylase def case.....

in usmle step1 u hav to choose the best option amongst all.....
njoy stdying for it......

 

[TAAOM]

i think it could be both A or D cuz

this patient has 21 hydroxylase deficience

How did i figure it out ? ....ok the patient cortisol is decreased and 17 ketosteroids only r increased .... they didnt give nything abt 17 hydroxy corticoids so we can assume they r not there at all ....we can eliminate hypertension there n there will be decreased 11 deoxycortisterone.

 

[TAAOM]

is it 21 hydoxylase defi ?

 

[samir8685]

Ans is B.............FINAL

Coz its 11-hydroxylase def.
which cause decrease in Aldosterone n Cortisol
but increase in 11-DOC which is weak mineralocorticoid n has same action as REAL mineralocorticoid (Aldosteron) so causes increase in Na reab. n HPT.......LOCK THE ANSWER PLS........!!!!!!!!!

 

[bebix]

A 4-year-old girl has ambiguous genitalia. Laboratory studies show an increase in plasma adrenocorticotropic hormone, a decrease in serum cortisol, and an increase in urine 17-ketosteroids. Chromosome analysis shows an XX genotype. Which of the following findings is also expected in this patient?

A. Decreased 11-deoxycorticosterone
B. Hypertension
C. Hypogonadism
D. Sodium loss

so, the right answer is B?