Daily Exam Question - Feb. 6, 2014
A newborn is noted with ambiguous genitalia and no palpable gonads. What is the most likely Karotype?
C. 47 XXY
D. 47 XYY
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