Study on a novel androgen receptor gene mutation causing androgen insensitivity syndrome / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 58-61, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-396599
ABSTRACT
Objective To investigate the clinical and genetic characteristics in two patients with androgen insensitivity syndrome. Methods Clinical features and laboratory data were collected from the patients and their families. All exons of the androgen receptor gene were amplified by PCR and PCR products were sequenced. Results Patient 1 presented with unambiguous female external genitalia, unilateral gynecomastia and primary amenorrhea. He did not have axillary hairs or pubic hairs. Patient 2 presented with undervirilization including scanty body hairs, gynecomastia and hypospadias. A missense mutation of
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2009
Tipo de documento:
Artigo
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