Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma.
We report a case of Sertoli cell adenoma in complete androgen insensitivity syndrome (CAIS) in a 22-year-old woman. Polymerase chain reaction-single strand conformation polymorphism and DNA sequencing revealed a single nucleotide substitution on exon 7 of the human androgen receptor (hAR) gene, resulting in a change of CGA (arginine) to CAA (glutamine) in codon 831.
Ko
H M
HM
Department of Anatomical Pathology, Kwangju Veterans Hospital, Kwangju, Korea.
Chung
J H
JH
Lee
J H
JH
Jung
I S
IS
Choi
I S
IS
Juhng
S W
SW
Choi
C
C
D000236:Adenoma / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics*; D012707:Sertoli Cell Tumor / Q000235:genetics*
D011944:Receptors, Androgen