What is the most likely diagnosis in a full-term neonate with electrolyte abnormalities and this exam finding?
Congenital adrenal hyperplasia
Hypospadias with cryptorchidism
Preterm ovarian hyperstimulation syndrome
Turner syndrome
Answer A. Congenital adrenal hyperplasiaEvaluation of this neonate with ambiguous genitalia revealed bilateral adrenal hypertrophy, a markedly elevated 17-hydroxyprogesterone level, and 46 XX karyotype. Salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a female infant was diagnosed.
Endocrinology