Laboratory of Seminology‑Sperm Bank "Loredana Gandini", Department of Experimental Medicine, "Sapienza" University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
Faculty of Medicine and Surgery, University of Enna "Kore", Contrada Santa Panasia, 94100, Enna, Italy.
J Endocrinol Invest. 2023 Nov;46(11):2237-2245. doi: 10.1007/s40618-023-02127-y. Epub 2023 Jun 10.
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.
We performed a literature review on Pubmed focusing on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management.
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.
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.
雄激素不敏感综合征（AIS）是一种由于 46 XY 核型的雄激素受体突变导致外周雄激素抵抗的疾病。激素抵抗的严重程度（完全、部分或轻度）决定了表型的广泛谱。
我们在 Pubmed 上进行了文献回顾，重点关注病因发病机制、分子改变以及诊断-治疗管理。
AIS 由多种 X 连锁突变决定，这些突变导致了受检者广泛的表型谱；它是最常见的性发育障碍（DSD）之一。部分 AIS 出生时即可出现临床怀疑，因为存在程度不等的外生殖器模糊，而完全 AIS 则在青春期出现，因为女性第二性征、原发性闭经和缺乏女性第一性征（子宫和卵巢）的发育。尽管存在轻度或无男性化，但实验室检查显示 LH 和睾酮水平升高可能有所帮助，但只有在进行基因检测（核型检查和雄激素受体测序）后才能确诊。临床表型，特别是在出生或新生儿期做出诊断时对患者的性别分配决定，将指导后续的医疗、手术和心理管理。
对于 AIS 的管理，强烈建议由医生、外科医生和心理学家组成的多学科团队，为性别认同选择和随后的适当治疗决策提供支持。
