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