Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome

Complete androgen insensitivity syndrome (CAIS)-resulting in 46, XY karyotype, but female phenotype-is a disorder of sex development and primary amenorrhea, but its effect on bone mineral density (BMD) is singular and difficult to manage. Androgens are an important modulator of bone remodeling and health, and the androgen receptor (AR) is pivotal for signaling within the bone cells. CAIS results in a severely disrupted AR throughout the body, causing an elevated risk of early osteoporosis. Timing of gonadectomy and hormone replacement therapy protocols are not established, creating a wide variety of treatment plans and BMD profiles. Our objective is to report a patient with CAIS status post prepubertal orchiectomy that developed early osteoporosis and to describe the lack of optimal strategies and consensus available to improve bone health in this population. Additionally, our case illustrates the fact there are no guidelines advocating the use of newer drugs for osteoporosis in this population.

Automated summary

Complete androgen insensitivity syndrome (CAIS) results in a 46, XY karyotype with a female phenotype, leading to an increased risk of early osteoporosis due to disrupted androgen receptor signaling in bone cells. There is currently a lack of consensus on optimal strategies for improving bone health in this population, with various treatment plans and BMD profiles.