21-OHase

[Apoplexy__]

I hate these 21-hydroxylase deficiency Q's.

So, I learned from UWorld that there are 3 distinct clinical presentations of 21-hydroxylase, varying in infantile vs. childhood presentation and salt-wasting vs. non-salt-wasting. UWorld delineated them as mild/moderate/severe -- severe being the classical presentation that one thinks of in FA.

I got the following UWorld Q today:
-XX neonate w/ ambiguous genitalia and normal BP
-Elevated testosterone + androstenedione
-Mother got virilized all up in her biz during pregnancy

Answer was aromatase deficiency, but I was thinking "moderate" 21-hydroxylase (even though "21-hydroxylase deficiency" was an answer choice, not specifying mild/moderate/severe). Moderate 21-hydroxylase deficiency presents as virilization at birth in females, and a childhood presentation in XY children. There is no HTN.

Even though the presentation perfectly fits the FA entry for aromatase deficiency, I don't see how I'm wrong.

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[Donald Juan]

I think virilization in moderate 21-OHase usually occurs during prepubertal childhood. Female born with ambiguous genitals in 21-OHase deficiency would make me expect either (edit...thanks flamen) hypotension or electrolyte abnormalities to go along with it, as in classic form. Without these present in the question I think you would lean more towards aromatase deficiency.

 

[Flamen04]

Wouldn't the baby be HYPOtensive if he had 21OHase deficiency? Therefore since he has normal BP....It further supports aromatase deficiency

 

[Apoplexy__]

Wouldn't the baby be HYPOtensive if he had 21OHase deficiency?

You're right, hypotensive. Whoops lol. Fixed.

Either way, Q ID# 2080 on UWorld says that the moderate 21-OHase deficiency is non-salt-wasting and presents as ambiguous genitalia in a XX neonate. Ah well. I think the biggest thing was the maternal virilization being very typical of aromatase deficiency. Do you see that in the CAH syndromes?

 

[SurgeDO]

You're right, hypotensive. Whoops lol. Fixed.

Either way, Q ID# 2080 on UWorld says that the moderate 21-OHase deficiency is non-salt-wasting and presents as ambiguous genitalia in a XX neonate. Ah well. I think the biggest thing was the maternal virilization being very typical of aromatase deficiency. Do you see that in the CAH syndromes?

CAH is autosomal recessive, so it can show virilization in the mother. the biggest clue for aromatase deficiency was the lack of hypotension. as others have said, if the baby was hypotensive, i would have gone with CAH.

 

[ChiefComplaint]

I hate these 21-hydroxylase deficiency Q's.

So, I learned from UWorld that there are 3 distinct clinical presentations of 21-hydroxylase, varying in infantile vs. childhood presentation and salt-wasting vs. non-salt-wasting. UWorld delineated them as mild/moderate/severe -- severe being the classical presentation that one thinks of in FA.

I got the following UWorld Q today:
-XX neonate w/ ambiguous genitalia and normal BP
-Elevated testosterone + androstenedione
-Mother got virilized all up in her biz during pregnancy

Answer was aromatase deficiency, but I was thinking "moderate" 21-hydroxylase (even though "21-hydroxylase deficiency" was an answer choice, not specifying mild/moderate/severe). Moderate 21-hydroxylase deficiency presents as virilization at birth in females, and a childhood presentation in XY children. There is no HTN.

Even though the presentation perfectly fits the FA entry for aromatase deficiency, I don't see how I'm wrong.

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Per UWorld: "MATERNAL VIRILIZATION does not occur in 21-OH due to INTACT PLACENTAL AROMATASE deficiency."