Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
Endocrinology and Metabolism
;
: 226-230, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-16307
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Diferenciação Sexual
/
Transtornos do Desenvolvimento Sexual
/
Síndrome de Resistência a Andrógenos
/
Mama
/
Receptores Androgênicos
/
Cariótipo
/
Ginecomastia
/
Infertilidade
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Endocrinology and Metabolism
Ano de publicação:
2015
Tipo de documento:
Artigo
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