目的:雄激素不敏感综合征(AIS)是一种在46XY核型受试者中由于雄激素受体突变导致的外周雄激素抵抗的疾病。激素抵抗的严重程度(完整,部分或轻度)决定了表型的广谱。
方法:我们对Pubmed进行了文献综述,重点是病因,分子改变,和诊断-治疗管理。
结果:AIS是由多种X连锁突变决定的,这些突变解释了受试者的广泛表型谱;它代表了最常见的性发育障碍(DSD)之一。临床怀疑可能在出生时出现部分AIS,由于外生殖器存在可变程度的歧义,在完成AIS的青春期,由于女性第二性征的发展,原发性闭经,和缺乏女性的主要性别特征(子宫和卵巢)。尽管轻度或缺乏男性化,但实验室检查显示LH和睾酮水平升高可能有帮助,但只有在基因检测(核型检查和雄激素受体测序)后才能诊断。临床表型,尤其是患者性别分配的决定,如果诊断是在出生时或新生儿期,将指导以下医学,手术和心理管理。
结论:对于AIS的管理,由医生组成的多学科团队,外科医生,和心理学家强烈建议支持患者和他/她的家人性别认同选择和随后适当的治疗决定。
OBJECTIVE: Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes.
METHODS: We performed a literature
review on Pubmed focusing on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management.
RESULTS: AIS is determined by a large variety of X-linked mutations that account for the wide phenotypic spectrum of subjects; it represents one of the most frequent disorders of sexual development (DSD). Clinical suspicion can arise at birth in partial AIS, due to the presence of variable degrees of ambiguity of the external genitalia, and at pubertal age in complete AIS, due to the development of female secondary sex characteristics, primary amenorrhea, and absence of female primary sex characteristics (uterus and ovaries). Laboratory tests showing elevated LH and testosterone levels despite mild or absent virilization may be helpful, but diagnosis can be achieved only after genetic testing (karyotype examination and androgen receptor sequencing). The clinical phenotype and especially the decision on sex assignment of the patient, if the diagnosis is made at birth or in the neonatal period, will guide the following medical, surgical and psychological management.
CONCLUSIONS: For the management of AIS, a multidisciplinary team consisting of physicians, surgeons, and psychologists is highly recommended to support the patient and his/her family on gender identity choices and subsequent appropriate therapeutic decisions.