• PMID: 25433660
• Gene Name: AR
• Condition: Androgen Insensitivity Syndrome, Gynecomastia
• Association: In this study a case of partial AIS presenting with gynecomastia was reported and the causative androgen receptor gene mutation was identified.
• Mutation: c.2128G>A, [p.Glu710Lys]
• Population size: 1
• Population details: 1 AIS
• Age: 16 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Androgen Insensitivity Syndrome, Gynecomastia

Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Lee SW, Kwak DS, Jung IS, Kwak JH, Park JH, Hong SM, Lee CB, Park YS, Kim DS, Choi WH, Ahn YH.

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. FAU - Lee, Sung Won AU - Lee SW AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Kwak, Dong Shin AU - Kwak DS AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Jung, In Sub AU - Jung IS AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Kwak, Joo Hee AU - Kwak JH AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Park, Jung Hwan AU - Park JH AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Hong, Sang Mo AU - Hong SM AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Lee, Chang Bum AU - Lee CB AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Park, Yong Soo AU - Park YS AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Kim, Dong Sun AU - Kim DS AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. FAU - Choi, Woong Hwan AU - Choi WH AD - Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.