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

H M Ko; J H Chung; J H Lee; I S Jung; I S Choi; S W Juhng; C Choi

doi:10.1097/00004347-200104000-00014

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

Int J Gynecol Pathol. 2001 Apr;20(2):196-9. doi: 10.1097/00004347-200104000-00014.

Authors

H M Ko¹, J H Chung, J H Lee, I S Jung, I S Choi, S W Juhng, C Choi

Affiliation

¹ Department of Anatomical Pathology, Kwangju Veterans Hospital, Kwangju, Korea.

PMID: 11293168
DOI: 10.1097/00004347-200104000-00014

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 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenoma / genetics*
Adult
Amino Acid Sequence
Androgen-Insensitivity Syndrome / genetics*
Base Sequence
DNA Mutational Analysis
Humans
Male
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Receptors, Androgen / chemistry
Receptors, Androgen / genetics*
Sertoli Cell Tumor / genetics*

Substances

Receptors, Androgen