在怀孕后不久被诊断出下喉神经偏瘤与上腺素过分分泌
David Kishlyansky1, Rithvika Ramesh2, Olivia Cook1
1McMaster University, Division of Endocrinology and Metabolism, Hamilton, ON L8S 4L8, Canada.
JCEM case reports
|July 1, 2024
概括
在怀孕期间诊断罕见的染细胞瘤或偏角细胞瘤 (PGL) 是具有挑战性的. 这些高功能瘤的早期诊断和治疗,即使是那些模仿孕前的瘤,也显著改善了母亲和胎儿的结果.
科学领域:
- 内分泌学 在内分泌学.
- 产科 产科 产科 产科 产科
- 在瘤学瘤学.
背景情况:
- 在怀孕期间的乳红细胞瘤或偏角细胞瘤 (PGL) 异常罕见,患病率估计在0.0002%至0.007%之间.
- 功能过高的PGL可能会出现重叠的症状,这些症状与妊娠引起的高血压或子宫前.
研究的目的:
- 报告一种罕见的,在怀孕后被诊断出的一种分泌上腺素的头PGL病例.
- 要强调在孕妇患者中对PGL的诊断挑战和管理考虑.
主要方法:
- 一个38岁的孕妇的病例介绍,症状暗示孕前.
- 诊断工作,包括生物化学测试 (甲氨酸水平).
- 手术切除和随后的基因检测显示出一种 *SDHB* 致病变体.
主要成果:
- 在怀孕后被诊断出一种分泌诺尔上腺素的下喉神经PGL.
- 患者经历了成功的手术切除.
- 基因分析发现了一种苏酸脱酶亚单元B (*SDHB*) 致病变体.
结论:
- 头部和部PGL和怀孕期间诊断的PGL是罕见的实体.
- 对于具有异常症状的患者,使用非孕妇参考范围进行甲氨酸检测至关重要.
- 在怀孕期间早期诊断和治疗PGL显著改善母亲和胎儿的结果.
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