PMID- 10543676 OWN - NLM STAT- MEDLINE DCOM- 19991110 LR - 20190611 IS - 0140-6736 (Print) IS - 0140-6736 (Linking) VI - 354 IP - 9188 DP - 1999 Oct 23 TI - Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. PG - 1444-5 AB - 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. FAU - Ong, Y C AU - Ong YC FAU - Wong, H B AU - Wong HB FAU - Adaikan, G AU - Adaikan G FAU - Yong, E L AU - Yong EL LA - eng PT - Case Reports PT - Letter PL - England TA - Lancet JT - Lancet (London, England) JID - 2985213R RN - 0 (Gonadal Steroid Hormones) RN - 0 (Receptors, Androgen) RN - 08J2K08A3Y (Dihydrotestosterone) SB - IM MH - Administration, Topical MH - Androgen-Insensitivity Syndrome/diagnosis/*drug therapy/genetics MH - Dihydrotestosterone/*therapeutic use MH - Drug Monitoring/*methods MH - Gonadal Steroid Hormones/*therapeutic use MH - Humans MH - Infant, Newborn MH - Male MH - Receptors, Androgen/drug effects MH - Transcriptional Activation/drug effects EDAT- 1999/10/30 00:00 MHDA- 1999/10/30 00:01 CRDT- 1999/10/30 00:00 PHST- 1999/10/30 00:00 [pubmed] PHST- 1999/10/30 00:01 [medline] PHST- 1999/10/30 00:00 [entrez] AID - S0140673699032055 [pii] AID - 10.1016/s0140-6736(99)03205-5 [doi] PST - ppublish SO - Lancet. 1999 Oct 23;354(9188):1444-5. doi: 10.1016/s0140-6736(99)03205-5.