同染色体马赛克特纳综合征与同时出现的阴下垂体和多重脑膜瘤
T Saideekshit1, Meenakshi Sundari S N1, Siva Govindan1
1Department of Internal Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, SRM Institute of Science and Technology, Kattankulathur, IND.
Cureus
|September 11, 2024
概括
同染色体马赛克特纳综合征 (IMTS) 是特纳综合征 (TS) 的一种罕见变体. 这一案例突出了一个47岁的女性,患有IMTS,性性性性和多重阴道瘤,强调了对非典型TS呈现的彻底评估的需要.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 神经学 神经学
背景情况:
- 同染色体马赛克特纳综合征 (IMTS) 是特纳综合征 (TS) 的罕见遗传变异.
- 在成年人中,TS的诊断可能会延迟,症状最小.
- 马赛克TS呈现出非典型的临床特征,需要全面评估.
研究的目的:
- 报告一个独特的病例,一名47岁的女性被诊断患有IMTS.
- 为了突出IMTS与性性和多重脑膜瘤的同时发生.
- 强调多学科方法在诊断和管理复杂的TS病例中的重要性.
主要方法:
- 一个47岁妇女的临床病例介绍.
- 身体检查,腹腔超声波,裂灯检查,听力图,荷尔蒙检测,脑部MRI和心脏类型检测.
- 评估,诊断和管理的多学科团队方法.
主要成果:
- 在一个47岁的女性中诊断出IMTS (46,X,i(X) (((q10) ((37)/45,X(3)).
- 同时出现的性性和二次上腺功能不全.
- 识别多重脑膜瘤 (细胞上层和左大脑角) 和TS特征 (矮身,初级缺血症,听力损失,视力障碍).
结论:
- IMTS可以在成年时异常呈现,并具有显著的并发症.
- 彻底的荷尔蒙评估至关重要,即使在怀疑TS的情况下,也可以检测出像脑膜瘤这样的非经典特征.
- 多学科的方法对于复杂的IMTS病例的综合护理至关重要.
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