Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
case_report · Level V
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- Record sourced from PubMed, PMID 10543676.
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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.
Medical subject headings
- Androgen-Insensitivity Syndrome
- Dihydrotestosterone
- Drug Monitoring
- Gonadal Steroid Hormones