A Challenging Neonatal Diagnosis

A full-term Neonate presents with electrolyte abnormalities and ambiguous genitalia. Explore the diagnostic workup for this critical endocrine emergency.

Congenital adrenal hyperplasia


What is the most likely diagnosis in a full-term neonate with electrolyte abnormalities and this exam finding?

What is the most likely diagnosis?

Congenital adrenal hyperplasia
Hypospadias with cryptorchidism
Preterm ovarian hyperstimulation syndrome
Turner syndrome
Mixed gonadal dysgenesis

21-hydroxylase deficiency, Ambiguous genitalia, Congenital adrenal hyperplasia, Pediatrics, Salt-wasting

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