胰腺内分泌的变化在患有帕希德尔摩皮质静止症的患者
Maria Stelmachowska-Banaś1, Sayka Barry2, Ishita Angurala2
1Department of Endocrinology, Centre of Postgraduate Medical Education, Warsaw, Poland.
The Journal of clinical endocrinology and metabolism
|January 29, 2025
概括
帕希德尔摩皮质症 (PHO) 患者经常呈现低IGF-1和升高的雌激素,模仿壮症. 基因分析揭示了HPGD和SLCO2A1基因中的新型变异,澄清了PHO特征.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 帕希德尔摩皮质症 (PHO),或初级高性骨关节病,与壮病有共同的特征,导致内分泌转移.
- 遗传原因通常涉及到HPGD或SLCO2A1.1.的双性功能丧失变体.
- 对于PHO患者的内分泌评估细节通常缺乏.
研究的目的:
- 研究PHO患者的遗传和内分泌特征.
- 为了区分PHO与壮病,在患者中转诊进行内分泌评估.
主要方法:
- 评估了来自14个家庭的17名患者,他们怀疑患有巨病,但IGF-1和/或GH抑制正常.
- 对HPGD和SLCO2A1变种进行了基因分析.
- 进行了详细的内分泌评估,包括IGF-1和雌激素水平.
主要成果:
- 所有患者都表现出数字俱乐部;大多数人患有周节症,关节痛,,包皮症和面部粗.
- 53%的人的IGF-1水平较低,而另一些人的水平处于最低四分位数.
- 在62%的男性患者中观察到雌激醇升高;双性HPGD或SLCO2A1变体在12/14个亲属中被确定,包括新的SLCO2A1变体.
结论:
- 低IGF-1和升高的雌激素是PHO中常见的内分泌发现.
- 在HPGD和SLCO2A1.1.中确定了9种新型和5种已知的致病性/可能致病性变异.
- 遗传和内分泌特征有助于诊断PHO并将其与壮病区分开来.
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