Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
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.
Ong
Y C
YC
Wong
H B
HB
Adaikan
G
G
Yong
E L
EL
D000287:Administration, Topical; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D013196:Dihydrotestosterone / Q000627:therapeutic use*; D016903:Drug Monitoring / Q000379:methods*; D012739:Gonadal Steroid Hormones / Q000627:therapeutic use*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011944:Receptors, Androgen / Q000187:drug effects; D015533:Transcriptional Activation / Q000187:drug effects
D012739:Gonadal Steroid Hormones; D011944:Receptors, Androgen; D013196:Dihydrotestosterone