完全型雄激素不敏感综合征1例
摘要
<正>雄激素不敏感综合征(androgen insensitivity syndrome,AIS)是一种X连锁遗传疾病,它是染色体核型为46,XY性别发育障碍(46,XY DSD)的最常见原因[1]。AIS是由于雄激素受体(androgen receptor,AR)基因突变或AR信号传导的缺陷而导致对雄激素不反应或反应不足所表现的多种
引文
1 Melo KFS,Mendon?a BB,Billerbeck AEC,et al.Síndrome de Insensibilidade aos Andrógenos:Análise Clínica,Hormonal e Molecular de 33 Casos[J].Arq Bras Endocrinol Metab,2005,49(1):87-97.
2 Galani A,Kitsiou-Tzeli S,Sofokleous C,et al.Androgen insensitivity syndrome:clinical features and molecular defects[J].Hormones(Athens),2008,7(3):217-229.
3 Hua KH,Yang L,Zhang XW,et al.Complete androgen insensitivity syndrome associated with vesical fistula:a case report and literature review[J].Beijing Da Xue Xue Bao Yi Xue Ban,2017,49(4):724-729.
4 Pritsini F,Kanakis GA,Kyrgios I,et al.Psychological Aspects of Androgen Insensitivity Syndrome:Two Cases Illustrating Therapeutical Challenges[J/OL].https://www.hindawi.com/journals/crie/2017/8313162.
5 Mendonca BB,Domenice S,Arnhold IJ,et al.46,XY disorders of sex development(DSD)[J].Clin Endocrinol(Oxf),2009,70(2):173-187.
6 Gottlieb B,Beitel LK,Nadarajah A,et al.The androgen receptor gene mutations database:2012 update[J].Hum Mutat,2012,33(5):887-894.
7 Abac?A,?atl?G,Berbero?lu M.Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development[J].JPediatr Endocrinol Metab,2015,28(9-10):1019-1027.
8 Liu AX,Shi HY,Cai ZJ,et al.Increased risk of gonadal malignancy and prophylactic gonadectomy:a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences[J].Hum Reprod,2014,29(7):1413-1419.
2 Galani A,Kitsiou-Tzeli S,Sofokleous C,et al.Androgen insensitivity syndrome:clinical features and molecular defects[J].Hormones(Athens),2008,7(3):217-229.
3 Hua KH,Yang L,Zhang XW,et al.Complete androgen insensitivity syndrome associated with vesical fistula:a case report and literature review[J].Beijing Da Xue Xue Bao Yi Xue Ban,2017,49(4):724-729.
4 Pritsini F,Kanakis GA,Kyrgios I,et al.Psychological Aspects of Androgen Insensitivity Syndrome:Two Cases Illustrating Therapeutical Challenges[J/OL].https://www.hindawi.com/journals/crie/2017/8313162.
5 Mendonca BB,Domenice S,Arnhold IJ,et al.46,XY disorders of sex development(DSD)[J].Clin Endocrinol(Oxf),2009,70(2):173-187.
6 Gottlieb B,Beitel LK,Nadarajah A,et al.The androgen receptor gene mutations database:2012 update[J].Hum Mutat,2012,33(5):887-894.
7 Abac?A,?atl?G,Berbero?lu M.Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development[J].JPediatr Endocrinol Metab,2015,28(9-10):1019-1027.
8 Liu AX,Shi HY,Cai ZJ,et al.Increased risk of gonadal malignancy and prophylactic gonadectomy:a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences[J].Hum Reprod,2014,29(7):1413-1419.