Daily Exam Question - Feb. 6, 2014

By drwall
February 7, 2014

A newborn is noted with ambiguous genitalia and no palpable gonads. What is the most likely Karotype?

A. 46XX

B. 46XY

C. 47 XXY

D. 47 XYY

Answer: A

Speroff 7th Edition pg.330-338

The severe form of CAH is the most common cause of sexual ambiguity in the newborn. The more attenuated (mild) block of 21-OHase activity usually does not produce physical signs associated with increased androgen production until after puberty. Thus this condition, termed late-onset 21-hydroxylase deficiency (LOHD) or late-onset congenital adrenal hyperplasia, is associated with the development of signs of hyperandrogenism in a woman in the second or early third decade of life. Autosomal recessive condition karotype 46XX

Daily Exam Question - Written/MOC

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