An 11-year-old, raised as a male, presented for evaluation of ambiguous genitalia and early puberty. On examination he was noted to have a large phallic-like structure with chordee, scrotal hypospadias, partial fusion of the labioscrotal folds, and no palpable gonads. Pelvic ultrasound revealed normal female internal genitalia. Laboratory evaluation confirmed a 46,XX karyotype with the presence of elevated 17-OHP levels and suppressed AM cortisol. The patient was immediately started on glucocorticoid therapy and monthly leuprolide acetate in an attempt to temporarily suppress gonadal axis. Intense psychological therapy was implemented to assess gender identity and prepare the patient to participate in the decision making regarding sex assignment. This case poses the challenge of managing a young adolescent with unrecognized 46,XX simple virilizing CAH.
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