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.
Article
de Zh
| WPRIM
| ID: wpr-396599
Bibliothèque responsable:
WPRO
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
Texte intégral:
1
Indice:
WPRIM
langue:
Zh
Texte intégral:
Chinese Journal of Endocrinology and Metabolism
Année:
2009
Type:
Article