Partial Androgen Insensitivity Syndrome Presenting with Gynecomastiaopen access
- Authors
- Lee, Sung Won; Kwak, Dong Shin; Jung, In Sub; Kwak, Joo Hee; Park, Jung Hwan; Hong, Sang Mo; Lee, Chang Bum; Park, Yong Soo; Kim, Dong Sun; Choi, Woong Hwan; Ahn, You Hern
- Issue Date
- Jun-2015
- Publisher
- KOREAN ENDOCRINE SOC
- Keywords
- Gynecomastia; Androgen-insensitivity syndrome; Receptors; androgen
- Citation
- ENDOCRINOLOGY AND METABOLISM, v.30, no.2, pp.226 - 230
- Indexed
- SCOPUS
KCI
- Journal Title
- ENDOCRINOLOGY AND METABOLISM
- Volume
- 30
- Number
- 2
- Start Page
- 226
- End Page
- 230
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/157082
- DOI
- 10.3803/EnM.2015.30.2.226
- ISSN
- 2093-596X
- 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.
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