title: Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia.
abstract: Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Dong Shin
authors.initials: DS
authors.lastname: Kwak
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: In Sub
authors.initials: IS
authors.lastname: Jung
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Joo Hee
authors.initials: JH
authors.lastname: Kwak
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Jung Hwan
authors.initials: JH
authors.lastname: Park
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Sang Mo
authors.initials: SM
authors.lastname: Hong
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Chang Bum
authors.initials: CB
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Yong Soo
authors.initials: YS
authors.lastname: Park
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Dong Sun
authors.initials: DS
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
authors.forename: Woong Hwan
authors.initials: WH
authors.lastname: Choi
authors.affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. ahnyh@hanyang.ac.kr.
authors.forename: You Hern
authors.initials: YH
authors.lastname: Ahn
keywords: Androgen-insensitivity syndrome; Gynecomastia; Receptors, androgen