Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2022
Mild Androgen Insensitivity Syndrome: The Current Landscape.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Batista Rafael Loch, Craveiro Flora Ladeira, Ramos Raquel Martinez, Mendonca Berenice Bilharinho
Аннотация
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).
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).