Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Sung Won Lee; Dong Shin Kwak; In Sub Jung; Joo Hee Kwak; Jung Hwan Park; Sang Mo Hong; Chang Bum Lee; Yong Soo Park; Dong Sun Kim; Woong Hwan Choi; You Hern Ahn
June 2015
Endocrinology & Metabolism;2015, Vol. 30 Issue 2, p226
Academic Journal
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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