XX baby presenting with penis &
scrotum cause -
a) High level of testosterone in maternal blood
b) Klinfilter syndrome
c) Turner syndrome
d) None of above
Correct Answer - A
Answer- A. High level of testosterone in maternal blood
This is a case of female pseudohermaphroditism i.e. XX karyotype
with virilized external genitalia.
Maternal androgen (testosterone) is the cause of this.
Female pseudohermaphroditism
Genotype is XX. Internal gonad is ovary but external genitalia are
virilized (male differentiation).
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency is the commonest cause.
Other causes are maternal virilizing tumor
(arrhenoblastoma),maternal androgen administration, CAH due to
11-beta hydroxylase deficiency, fetal placental aromatase
deficiency, and WNT-4 gene mutation.