The Challenge of Mistaken Sex Assignment in an 11-Year-Old with Virilizing CAH

  • Martha TaboadaEmail author
  • Priscila Gagliardi
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)


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.


Congenital Adrenal Hyperplasia Pubic Hair Early Puberty Ambiguous Genitalia Leuprolide Acetate 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Division of Endocrinology, Diabetes and MetabolismNemours Children’s ClinicJacksonvilleUSA

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