Author(s): Ong YC, Wong HB, Adaikan G, Yong EL
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Abstract We report a 46,XY infant with an M807T mutation in his androgen receptor that abrogated cellular responses to testosterone, but not to dihydrotestosterone (DHT), resulting in ambiguous genitalia. Treatment with a topical DHT gel restored male genital development allowing the infant to be reared in accordance with his chromosomal sex.
This article was published in Lancet
and referenced in Journal of Diabetes & Metabolism