完全型雄激素不敏感综合征研究进展  

Advances in complete androgen insensitivity syndrome

作　　者：纪可佳 张改秀 Ji Kejia;Zhang Gaixiu(Pediatrics and Education and Research Office of Shanxi Medical University,Taiyuan 030001,China;Endocrine and Genetic Metabolism Section,Shanxi Medical University Affiliated Children's Hospital,Taiyuan 030001,China)

机构地区：[1]山西医科大学儿科医学系,太原030001 [2]山西医科大学附属儿童医院内分泌与遗传代谢科,太原030001

出　　处：《国际儿科学杂志》2024年第11期758-762,共5页International Journal of Pediatrics

摘　　要：完全型雄激素不敏感综合征(complete androgen insensitivity syndrome,CAIS)为X连锁隐性遗传病,是目前较常见的性发育异常疾病之一,主要由雄激素受体基因突变引起。CAIS临床表现为46,XY染色体核型与女性外生殖器的表型。患儿常以婴幼儿腹股沟肿块和青春期原发性闭经就诊,具有持续性雄激素抵抗的内分泌特征。CAIS患儿多以女性抚养,其临床管理的核心在于性腺切除的时机,目前仍存有争议。临床指南建议将性腺切除术推迟到青春期后,以保证青春期正常的生长发育。术后雌激素替代治疗及心理治疗也是多学科综合治疗的重要方面。该文就CAIS的发病机制、临床特征、诊断及治疗四个方面进行综述,以进一步提高临床医师对该疾病的认识。Complete androgen insensitivity syndrome(CAIS)is one of the most common disorders of sex development,and is an X-linked recessive disorder,mainly caused by mutations in the androgen receptor gene.The clinical manifestations are 46,XY chromosome karyotype,and female external genitalia,and the patients often presented with infantile inguinal mass and primary amenorrhea in puberty.They have endocrine features of persistent androgen resistance.Children with CAIS are mostly raised as females,and the clinical management of CAIS centers on the timing of gonadectomy,which is still controversial.Clinical guidelines recommend delaying gonadectomy until after puberty to ensure normal pubertal growth and development.Postoperative estrogen replacement therapy and psychotherapy are also important aspects of comprehensive multidisciplinary treatment.In this article,we review four aspects of CAIS:pathogenesis,clinical features,diagnosis,and treatment,in order to further improve clinicians'understanding of the disease.

关 键 词：完全型雄激素不敏感综合征 性发育异常 AR基因 性腺切除 

分 类 号：R725.9[医药卫生—儿科]