HY USMLE Q #1382 – Repro

A 2-week-old male newborn is evaluated by a specialist pediatrician due to ambiguous genitalia since birth. Physical examination shows a 2-cm phallus a partially fused labioscrotal fold. Karyotype analysis comes back as 46XX. Ultrasound shows no uterus, and serum testosterone is within the normal male newborn range. Which of the following is the most likely explanation for this patient’s findings?

A) 5α-reductase deficiency
B) Androgen insensitivity syndrome
C) Klinefelter syndrome
D) Müllerian agenesis
E) SRY gene translocation