A neonate is brought to the endocrinologist with ambiguous external genitalia. It is determined that the infant has ovaries and internal female genitalia, but external virilization (ambiguous genitalia). Which of the following diagnoses is the most likely?
A) Turner's syndrome (45, XO)
B) Klinefelter's syndrome (47, XXY)
C) Congenital adrenal hyperplasia
D) Deficient estrogens during fetal life
E) 5$\alpha$-reductase mutation

Question

Quizplus · Accepted Answer

Congenital adrenal hyperplasia is the most likely diagnosis in a neonate with ambiguous external genitalia, ovaries, and internal female genitalia. This condition is characterized by enzyme deficiencies in the adrenal gland, leading to excessive androgen production and virilization of female infants.

A Neonate Is Brought to the Endocrinologist with Ambiguous External α\alphaα

A Neonate Is Brought to the Endocrinologist with Ambiguous External $\alpha$