遗传、神经肽能和心脏代谢在女性性早熟中的相互作用。

IF 1.1 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Cardiovascular Endocrinology & Metabolism Pub Date : 2025-08-27 eCollection Date: 2025-09-01 DOI:10.1097/XCE.0000000000000343
Aygun Khaleddin Musayeva, Mahira Firudinkizi Amirova
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引用次数: 0

摘要

中枢性性早熟(CPP)是下丘脑-垂体-性腺轴过早再激活的结果,越来越被认为是一种与心脏代谢健康相关的全体性疾病。基因突变,特别是印迹基因如MKRN3和DLK1,是家族性CPP的主要单基因原因,而KISS1和KISS1R中罕见的激活变异突出了kisspeptin信号传导的关键作用。神经肽,包括kisspeptin和neurokinin B,是青春期调节的核心。临床评估、生化标志物、盆腔超声和基因检测的进步提高了诊断的准确性,尽管将CPP与良性变异区分开来仍然具有挑战性。促性腺激素释放激素类似物仍然是停止进展和优化成人身高的金标准,而新的神经肽调节剂显示出希望。除了生长结果,越来越多的证据表明显著的心脏代谢后遗症,强调了早期,精确指导干预的重要性。整合基因组学、神经肽能学和代谢的见解可以改进诊断、指导治疗,并有可能减轻受影响女性的终身心血管风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.

Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.

Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.

Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty.

Central precocious puberty (CPP) results from premature reactivation of the hypothalamic-pituitary-gonadal axis and is increasingly recognized as a systemic condition linked to cardiometabolic health. Genetic mutations, particularly in imprinted genes such as MKRN3 and DLK1, are major monogenic causes of familial CPP, while rare activating variants in KISS1 and KISS1R highlight the pivotal role of kisspeptin signaling. Neuropeptides, including kisspeptin and neurokinin B, are central to pubertal regulation. Advances in clinical assessment, biochemical markers, pelvic ultrasound, and genetic testing have improved diagnostic precision, though differentiating CPP from benign variants remains challenging. Gonadotropin-releasing hormone analogs remain the gold standard for halting progression and optimizing adult height, while novel neuropeptide modulators show promise. Beyond growth outcomes, accumulating evidence indicates significant cardiometabolic sequelae, underscoring the importance of early, precision-guided intervention. Integrating genomic, neuropeptidergic, and metabolic insights can refine diagnosis, guide therapy, and potentially mitigate lifelong cardiovascular risk in affected females.

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来源期刊
Cardiovascular Endocrinology & Metabolism
Cardiovascular Endocrinology & Metabolism CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
5.60
自引率
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发文量
24
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