Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma

Authors
Ko, HM Chung, JH Lee, JH Jung, IS Choi, IS Juhng, SW Choi, C
Citation
Hm. Ko et al., Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma, INT J GYN P, 20(2), 2001, pp. 196-199
Citations number
15
Categorie Soggetti
Reproductive Medicine
Journal title
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
ISSN journal
02771691 → ACNP
Volume
20
Issue
2
Year of publication
2001
Pages
196 - 199
Database
ISI
SICI code
0277-1691(200104)20:2<196:ARGMAW>2.0.ZU;2-Q
Abstract
We report a case of Sertoli cell adenoma in complete androgen insensitivity syndrome (CAIS) in a 22-year-old woman. Polymerase chain reaction-single s trand conformation polymorphism and DNA sequencing revealed a single nucleo tide substitution on exon 7 of the human androgen receptor (hAR) gene, resu lting in a change of CGA (arginine) to CAA (glutamine) in codon 831.