Gyrus Daily Questions; Obstetrics & Gynecology #4 - USMLE Forums
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Old 11-04-2012
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Arrow Gyrus Daily Questions; Obstetrics & Gynecology #4

A pediatrician asks you to consult on a case of a baby that was born with because they are not able to
assign a gender. There is a signifi cant degree of clitoral enlargement and labial folds are uncharacteristically
large and partially fused. You recommend:
A Ultrasound to evaluate the internal reproductive organs
B Karyotype
C Serum sodium level
D 17-OH-progesterone level
E Tell the parents they have a baby girl
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next best step would be pelvic ultrasound, followed by karyotype if needed

A.
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D 17-OH-progesterone level
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The answer is C

CAH caused by the 21-hydroxylase defect is the most common cause of distinct virilization of the female newborn. Its incidence is 1 in 5,000 births and accounts for 95% of all cases of CAH. The chromosomes, gonads, and internal genitalia are female but the external genitalia are virilized to varying degrees due to excess production of fetal androgens during development. Although

it is important to confirm the diagnosis with a serum17-OH-progesterone level, the most crucial first step is to evaluate serum electrolytes because salt wasting may be present and can be fatal in the neonatal period. Repletion of necessary electrolytes is critical as is suppression of the adrenal gland.

A karyotype should be obtained later to rule out other causes of ambiguous genitalia, such as hermaphroditism and mixed gonadal dysgenesis. You should not assign a gender until you have all of the information.
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Quote:
Originally Posted by cingulate.gyrus View Post
........... the most crucial first step is to evaluate serum electrolytes because salt wasting may be present and can be fatal in the neonatal period....................
I left that part for the Pediatrician. I was there for the expert opinion
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Old 11-05-2012
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Quote:
Originally Posted by Novobiocin View Post
I left that part for the Pediatrician. I was there for the expert opinion

Yes that's a confusion here a pediatrician is asking us ...
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Old 11-20-2012
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Real CK exam like Q
thanks Gyrus
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its either A or D. however D is more appropriate. as the enzyme might have led to ambiguous genitalia. however we can confirm with karyotype.
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