Endocrinol Metab.  2015 Jun;30(2):226-230. 10.3803/EnM.2015.30.2.226.

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

• KMID: 2282015
• DOI: http://doi.org/10.3803/EnM.2015.30.2.226

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.

Keyword

Gynecomastia; Androgen-insensitivity syndrome; Receptors, androgen

MeSH Terms

Androgen-Insensitivity Syndrome*
Breast
Disorders of Sex Development
Female
Gynecomastia*
Humans
Infertility
Karyotype
Male
Phenotype
Receptors, Androgen
Sex Differentiation
Receptors, Androgen

Figure

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  Fig. 1 (A) Gynecomastia, anterior view. (B) Gynecomastia, lateral view.

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  Fig. 2 External genitalia, micropenis.

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  Fig. 3 Androgen receptor gene sequencing.

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