轻度雄激素不敏感综合征：现状。
Mild Androgen Insensitivity Syndrome: The Current Landscape.
机构信息
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, do Departamento de Clínica Médica, Faculdade de Medicina da Universidade de São Paulo-USP, São Paulo, Brazil; Endocrinology Unit, Instituto do Câncer do Estado de São Paulo/ICESP, Faculdade de Medicina da Universidade de São Paulo-USP, São Paulo, Brazil.
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, do Departamento de Clínica Médica, Faculdade de Medicina da Universidade de São Paulo-USP, São Paulo, Brazil.
出版信息
Endocr Pract. 2022 Sep;28(9):911-917. doi: 10.1016/j.eprac.2022.05.009. Epub 2022 May 31.
OBJECTIVE
Mild androgen insensitivity syndrome (MAIS) belongs to the androgen insensitivity syndrome (AIS) spectrum, an X-linked genetic disease that is the most common cause of differences in sex development. Unfortunately, AIS studies mainly focus on the partial and complete phenotypes, and the mild phenotype (MAIS) has been barely reported. Our purpose is to explore the MAIS facets, clinical features, and molecular aspects.
METHODS
We collected all reported MAIS cases in the medical literature and presented them based on the phenotype and molecular diagnosis.
RESULTS
We identified 49 different androgen receptor (AR) mutations in 69 individuals in the literature. We compared the AR mutations presented in individuals with MAIS with AR mutations previously reported in other AIS phenotypes (partial and complete) regarding the type, location, genotype-phenotype correlation, and functional studies.
CONCLUSION
This review provides a landscape of the mild phenotype of AIS. Most patients with MAIS present with male factor infertility. Therefore, AR gene sequencing should be considered during male factor infertility investigation, even in males with typically male external genitalia. In addition, MAIS can be part of other medical conditions, such as X-linked spinal and bulbar muscular atrophy (Kennedy disease).
目的
轻度雄激素不敏感综合征（MAIS）属于雄激素不敏感综合征（AIS）谱，这是一种 X 连锁的遗传疾病，是性别发育差异的最常见原因。不幸的是，AIS 的研究主要集中在部分和完全表型上，而轻度表型（MAIS）几乎没有报道。我们的目的是探讨 MAIS 的各个方面、临床特征和分子方面。
方法
我们收集了文献中所有报道的 MAIS 病例，并根据表型和分子诊断进行了呈现。
结果
我们在文献中确定了 69 个人中的 49 种不同的雄激素受体（AR）突变。我们比较了 MAIS 个体中呈现的 AR 突变与先前在其他 AIS 表型（部分和完全）中报告的 AR 突变，涉及突变类型、位置、基因型-表型相关性和功能研究。
结论
本综述提供了 AIS 轻度表型的全景。大多数 MAIS 患者表现为男性因素不孕。因此，即使在外生殖器典型的男性中，在男性因素不孕的调查中也应考虑 AR 基因测序。此外，MAIS 可能是其他医学病症的一部分，如 X 连锁脊髓和延髓肌肉萎缩症（肯尼迪病）。
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