Department of Internal Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
Department of Endocrinology, Diabetes & Metabolism, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
BMJ Case Rep. 2021 May 12;14(5):e241968. doi: 10.1136/bcr-2021-241968.
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.
完全雄激素不敏感综合征（CAIS）导致 46,XY 核型，但表现为女性表型，是一种性发育障碍和原发性闭经，但它对骨密度（BMD）的影响是单一的，难以管理。雄激素是骨重塑和健康的重要调节剂，雄激素受体（AR）是骨细胞内信号传递的关键。CAIS 导致全身 AR 严重紊乱，导致早期骨质疏松症的风险增加。性腺切除术和激素替代治疗方案的时机尚未确定，导致治疗计划和 BMD 谱多种多样。我们的目的是报告一例青春期前睾丸切除术的 CAIS 患者发生早期骨质疏松症，并描述在该人群中改善骨健康的缺乏最佳策略和共识。此外，我们的病例还说明了目前没有指南主张在该人群中使用新的骨质疏松症药物。
