A case of male pseudohermaphroditism in a child with Down's syndrome is reported. The patient had infantile testis, ambiguous genitalia, and no apparent internal female genitalia indicating a failure of either gonadal function or end-organ response.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1013016PMC
http://dx.doi.org/10.1136/jmg.10.2.189DOI Listing

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