Introduction Osteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). Little is known about changes in bone mineral density (BMD) in adolescents with CAIS and whether it is affected by early gonadectomy. Body composition data have not been reported. Methods Single-center, retrospective study of CAIS adolescents who underwent dual-energy x-ray absorptiometry (DXA) (Hologic, Horizon A). Body composition is presented as lean and fat mass indices (LMI, FMI). Z-scores for lumbar spine areal BMD (LBMD), total body less head (TBLH), bone mineral content (BMC), LMI, and FMI were calculated using female normative data. Results are expressed as median and min, max. Results Six females with genetically confirmed CAIS were identified-one with intact gonads and five with history of gonadectomy at 2-11 months. In the subject with intact gonads, LBMD-Z and TBLH BMC-Z were -1.56 and -1.26, respectively, at age 16 years. Among those with gonadectomy, LBMD-Z was -1.8 (-3.59 to 0.49) at age 15.6 years (12-16.8) and decreased in all three subjects who had longitudinal follow-up despite hormone replacement therapy (HRT). Adherence to HRT was intermittent. LMI-Z and FMI-Z were 0.1 (-1.39 to 0.7) and 1.0 (0.22 to 1.49), respectively. Conclusions These limited data indicate that adolescents with CAIS have bone mass deficit. Further studies are needed to understand the extent of BMD abnormalities and the effect of gonadectomy, especially early in childhood, and to establish the optimal HRT regimen for bone accrual. Data on lean mass are reassuring.

中文翻译：

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病例报告：患有完全性雄激素不敏感综合征的青少年的低骨量和正常瘦体重。

简介 有报道称，患有完全性雄激素不敏感综合征 (CAIS) 的成人出现骨质减少和骨质疏松症。对患有 CAIS 的青少年的骨矿物质密度 (BMD) 的变化以及它是否受到早期性腺切除术的影响知之甚少。身体成分数据尚未报告。方法 对接受双能 X 线骨密度仪 (DXA) (Hologic, Horizo​​n A) 的 CAIS 青少年进行的单中心回顾性研究。身体成分表示为瘦肉和脂肪质量指数（LMI，FMI）。使用女性规范数据计算腰椎区域 BMD (LBMD)、全身少头 (TBLH)、骨矿物质含量 (BMC)、LMI 和 FMI 的 Z 分数。结果表示为中位数和最小值、最大值。结果 6 名经基因证实为 CAIS 的女性被确定为 1 名性腺完整，5 名在 2-11 个月时有性腺切除史。在具有完整性腺的受试者中，LBMD-Z 和 TBLH BMC-Z 在 16 岁时分别为 -1.56 和 -1.26。在接受性腺切除术的患者中，LBMD-Z 在 15.6 岁 (12-16.8) 时为 -1.8 (-3.59 至 0.49)，并且在所有三名接受激素替代治疗 (HRT) 后进行纵向随访的受试者中均有所下降。对 HRT 的依从性是间歇性的。LMI-Z 和 FMI-Z 分别为 0.1（-1.39 到 0.7）和 1.0（0.22 到 1.49）。结论 这些有限的数据表明患有 CAIS 的青少年有骨量不足。需要进一步的研究来了解 BMD 异常的程度和性腺切除术的影响，特别是在儿童早期，并确定骨骼生长的最佳 HRT 方案。