What is the most likely diagnosis in a full-term neonate with electrolyte abnormalities and this exam finding?
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.
Congenital adrenal hyperplasia
Hypospadias with cryptorchidism
Preterm ovarian hyperstimulation syndrome
Turner syndrome
Endocrinology