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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 - Endocrinol Metab (Seoul) (2014)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.

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.

No MeSH data available.


Related in: MedlinePlus

(A) Gynecomastia, anterior view. (B) Gynecomastia, lateral view.
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Figure 1: (A) Gynecomastia, anterior view. (B) Gynecomastia, lateral view.

Mentions: A 16-year-old male was referred and presented to our clinic with bilateral breast enlargement for 4 years (Fig. 1). Because of gynecomastia, he was withdrawn and avoided outdoor activities. He was born with hypospadias and underwent surgery at 1 year of age. The patient was 161 cm in height, 57.8 kg in weight (body mass index, 22.3 kg/m2), and his blood pressure was 120/80 mm Hg. His pubertal development was normal, but both breasts were enlarged (Tanner stage III). Pubic hairs were observed (Tanner stage V), the volume of both testes was 15 mL (Tanner stage IV), and a micropenis was noticed (Fig. 2).


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 - Endocrinol Metab (Seoul) (2014)

(A) Gynecomastia, anterior view. (B) Gynecomastia, lateral view.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4508269&req=5

Figure 1: (A) Gynecomastia, anterior view. (B) Gynecomastia, lateral view.
Mentions: A 16-year-old male was referred and presented to our clinic with bilateral breast enlargement for 4 years (Fig. 1). Because of gynecomastia, he was withdrawn and avoided outdoor activities. He was born with hypospadias and underwent surgery at 1 year of age. The patient was 161 cm in height, 57.8 kg in weight (body mass index, 22.3 kg/m2), and his blood pressure was 120/80 mm Hg. His pubertal development was normal, but both breasts were enlarged (Tanner stage III). Pubic hairs were observed (Tanner stage V), the volume of both testes was 15 mL (Tanner stage IV), and a micropenis was noticed (Fig. 2).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.

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.

No MeSH data available.


Related in: MedlinePlus