Endocrine Abstracts

Men and women who have AIS face a number of challenges. Based on research insights from the past two decades, management of this pleiotropic condition during childhood has totally changed. In this presentation, we will update endocrinologists who provide care for adults living with AIS about these changes, as they will, after transition, need to further counsel their patients and coordinate multidisciplinary care and surveillance of retained gonads in adulthood. Girls with complete AIS are fully informed about the condition in all its aspects already in early childhood. Research has demonstrated that their testes can be safely retained at least until the end of puberty, and possibly beyond, provided that optimal surveillance of tumour risk can be offered. Vaginal self-dilation has become a first choice therapy for vaginal hypoplasia but requires a supporting and experienced team. Remaining uncertainties with regard to long-term outcomes of these new approaches will need to be addressed in future research. Partial AIS in many cases remains a diagnostic odyssey. Non-coding and even epigenetic changes may underlie the condition, and with the advent of cutting-edge genomic strategies and innovative functional studies, re-testing can be considered in individuals who have remained for years without a molecular genetic diagnosis. As genital surgery in childhood becomes increasingly controversial, a new generation of children with partial AIS grows up with atypical genitalia. There is an urgent need to understand how this influences psychosocial and psychosexual development and gender well-being throughout life. In addition, individuals who have partial AIS more often grow up as boys nowadays, requiring novel strategies to address short penile length and breast development, as well as surveillance of retained gonads, and sometimes fertility. As for other DSD conditions, full transparency, adequate psychosocial support and peer contacts have been associated with positive outcomes and will in this presentation be placed ad the heart of multidisciplinary care.