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丸上腺残余瘤的纵向表征和超声波分期
Sonal Vaid1, Sarah Kulkarni1, Jamie Marko1,2,3
1National Institutes of Health Clinical Center, National Institutes of Health.
The Journal of clinical endocrinology and metabolism
|September 8, 2025
概括
丸上腺休息瘤 (TART) 在患有先天性上腺增生症 (CAH) 的男孩中很常见,通常在青春期之前出现. 建议进行早期查,特别是对于那些具有盐浪费表型的人来说.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 生殖医学 生殖医学
- 医疗成像医学成像
背景情况:
- 丸上腺休息瘤 (TART) 是典型的先天性上腺增生症 (CAH) 中男性不孕症的常见并发症和主要原因.
- 对于TART在受影响个体中的自然进展和发展的了解有限.
研究的目的:
- 为了前性地调查TART的发病年龄,促成因素和超声波特征,在男性中进行经典CAH.
- 追踪TART从童年到成年期的发展.
主要方法:
- 一项涉及临床和荷尔蒙数据收集的纵向研究.
- 在儿童时期,每六个月进行一次,在成年后每年进行一次串行阴囊超声检查.
- 使用生存分析和纵向模型来分析TART开始和进展.
主要成果:
- 在研究的36名男性中,27名 (75%) 患有TART,平均发病年龄为13.6岁;大约22%的风险在10岁时出现.
- TART的存在与ACTH,17-OHP,androstenedione,PRA的升高相关,早期诊断,盐浪费 (SW) 表型,以及null/In2G突变.
- SW表型,较高的皮质剂量和升高的ACTH是TART的显著风险因素. 超声波发现显示,从单个结节的进展到集群质量.
结论:
- 在CAH中TART形成通常发生在青春期前的男孩身上,表现出可预测的超声波进展,支持放射性分期系统.
- 建议对TART进行儿科查,特别是对于具有SW表型或基因型的个体.
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