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Published on: October 13, 2018
Genetic, neuropeptidergic, and cardiometabolic interplay in female central precocious puberty
Aygun Khaleddin Musayeva1, Mahira Firudinkizi Amirova2
1Department of Paediatrics II.
Insights
Central precocious puberty (CPP) is a systemic condition linked to cardiometabolic health. Early intervention using genetic and neuropeptide insights can improve outcomes and mitigate lifelong cardiovascular risk.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Metabolic Health
Background:
- Central precocious puberty (CPP) involves early activation of the hypothalamic-pituitary-gonadal axis.
- CPP is increasingly linked to systemic conditions, particularly cardiometabolic health issues.
- Genetic factors, including imprinted genes (MKRN3, DLK1) and kisspeptin signaling (KISS1, KISS1R), are key causes.
Purpose of the Study:
- To review the current understanding of CPP.
- To highlight the link between CPP and cardiometabolic health.
- To discuss diagnostic advancements and therapeutic strategies.
Main Methods:
- Review of clinical assessment, biochemical markers, pelvic ultrasound, and genetic testing.
- Analysis of neuropeptide signaling in pubertal regulation.
- Evaluation of current and emerging therapeutic approaches.
Main Results:
- Diagnostic precision has improved, but differentiating CPP from benign variants remains challenging.
- Gonadotropin-releasing hormone analogs are standard treatment; neuropeptide modulators show potential.
- Evidence links CPP to significant cardiometabolic sequelae.
Conclusions:
- Integrating genomic, neuropeptidergic, and metabolic insights is crucial for refining CPP diagnosis and therapy.
- Early, precision-guided intervention is vital for optimizing growth and mitigating long-term cardiovascular risk.
- Understanding CPP as a systemic condition is essential for comprehensive patient care.
Abstract:
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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