Soule S G, Conway G, Prelevic G M, Prentice M, Ginsburg J, Jacobs H S
Department of Medicine, UCL Medical School, Middlesex Hospital, London, UK.
Clin Endocrinol (Oxf). 1995 Dec;43(6):671-5. doi: 10.1111/j.1365-2265.1995.tb00533.x.
The syndrome of androgen insensitivity, a paradigm of a hormone resistance syndrome, manifests as failure of masculinization despite normal or high concentrations of serum testosterone. The defect in these 46 XY patients resides in the androgen receptor gene, with consequent defective androgen action and abnormal sexual differentiation. We sought to evaluate whether the adverse sequelae of androgen resistance may extend to skeletal tissue by measuring bone mineral density in six patients with androgen insensitivity.
A cross-sectional retrospective study.
Bone mineral density was measured by means of a Dexa (Hologic QDR 1000 scanner). The diagnosis of androgen insensitivity was confirmed in each patient by karyotype and assay of sex hormones.
The five adult patients with androgen insensitivity had been exposed to both defective androgen action and variable periods of oestrogen deficiency. The latter resulted from the low circulating oestrogen concentrations (for premenopausal females) before gonadectomy and inadequate oestrogen replacement after gonadectomy. All five adults with androgen insensitivity had osteopenia in both the lumbar spine (T-score -1.52 to -3.85) and femoral neck (T-score -1.34 to -4.91).
Osteopenia in patients with androgen insensitivity may relate to defective androgen action, oestrogen deficiency or a combination of the two. These observations have implications for the management of patients with androgen insensitivity and may provide insight into the effects of androgens on the female as well as the male skeleton.
雄激素不敏感综合征是激素抵抗综合征的一个范例，表现为尽管血清睾酮浓度正常或升高，但男性化过程仍失败。这些46 XY患者的缺陷在于雄激素受体基因，导致雄激素作用缺陷和性分化异常。我们试图通过测量6例雄激素不敏感患者的骨密度，评估雄激素抵抗的不良后果是否会扩展到骨骼组织。
一项横断面回顾性研究。
采用双能X线吸收法（Dexa，Hologic QDR 1000扫描仪）测量骨密度。通过核型分析和性激素检测确诊每位患者的雄激素不敏感。
5例成年雄激素不敏感患者既经历了有缺陷的雄激素作用，又经历了不同时期的雌激素缺乏。后者是由于性腺切除术前循环雌激素浓度低（对于绝经前女性）以及性腺切除术后雌激素替代不足所致。所有5例成年雄激素不敏感患者腰椎（T值为-1.52至-3.85）和股骨颈（T值为-1.34至-4.91）均存在骨质减少。
雄激素不敏感患者的骨质减少可能与雄激素作用缺陷、雌激素缺乏或两者共同作用有关。这些观察结果对雄激素不敏感患者的管理具有启示意义，并可能为雄激素对女性和男性骨骼的影响提供见解。
