Musayeva Aygun Khaleddin, Amirova Mahira Firudinkizi
Department of Paediatrics II.
Biochemistry Department, Azerbaijan Medical University, Baku, Azerbaijan.
Cardiovasc Endocrinol Metab. 2025 Aug 27;14(3):e00343. doi: 10.1097/XCE.0000000000000343. eCollection 2025 Sep.
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 and , are major monogenic causes of familial CPP, while rare activating variants in and 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.
中枢性性早熟（CPP）是由下丘脑 - 垂体 - 性腺轴过早重新激活引起的，越来越被认为是一种与心脏代谢健康相关的全身性疾病。基因突变，特别是在诸如[未提及具体基因名称]等印记基因中的突变，是家族性CPP的主要单基因病因，而[未提及具体基因名称]和[未提及具体基因名称]中的罕见激活变体突出了 kisspeptin 信号传导的关键作用。神经肽，包括 kisspeptin 和神经激肽 B，对青春期调节至关重要。临床评估、生化标志物、盆腔超声和基因检测方面的进展提高了诊断精度，尽管将 CPP 与良性变体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阻止进展和优化成年身高的金标准，而新型神经肽调节剂显示出前景。除了生长结果外，越来越多的证据表明存在显著的心脏代谢后遗症，强调了早期、精准指导干预的重要性。整合基因组、神经肽能和代谢方面的见解可以完善诊断、指导治疗，并可能减轻受影响女性终身的心血管风险。
