Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.
Gynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant'Orsola, DIMEC, University of Bologna, 40138 Bologna, Italy.
Int J Mol Sci. 2021 Jan 27;22(3):1264. doi: 10.3390/ijms22031264.
Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.
完全雄激素不敏感综合征（CAIS）是由于对雄激素的作用完全抵抗，导致 46,XY 核型和功能正常的睾丸具有女性表型。CAIS 是由雄激素受体基因（）中的失活突变引起的。它组织在位于 X 染色体上的八个外显子中。在 CAIS 中已经报道了数百种基因变异。它们分布在整个基因中，优势位于配体结合域。CAIS 主要表现为青春期女性的原发性闭经，或青春期前儿童的双侧腹股沟/阴唇疝中包含睾丸。关于 CAIS 女性管理的一些问题仍然没有得到很好的标准化（例如对完整睾丸的随访、性腺切除的时机和最佳激素替代治疗）。基础研究将导致考虑新的问题，以提高长期幸福感（例如骨骼健康、免疫和代谢方面以及心血管风险）。多学科专家方法是提高 CAIS 女性长期生活质量的必要条件。
