La sindrome da insensibilità agli androgeni: gestione e outcomes a lungo termine

Androgen insensitivity syndrome (AIS) is a difference in sex development caused by a mutation in the androgen receptor gene. A variable grade of residual androgen receptor activity is described, resulting in different clinical phenotypes which range from individuals with a completely female phenotype to male phenotype with infertility/under virilisation. The management of AIS is complex and often challenging and a multidisciplinary approach is needed. The most critical points include the choice of gender identity in ambiguous forms and determining the need and appropriate timing of gonadectomy. Bone health, psychological and sexual aspects need to be considered in the management of these patients.