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Published on: June 2, 2018
Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications
Roberto Paparella1, Francesca Pastore1, Lavinia Marchetti1
1Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy.
Insights
Calcium ions (Ca2+) are vital for children's growth and development, regulating hormones and brain function. Disruptions in calcium signaling can lead to pediatric endocrine and neurological disorders.
Area of Science:
- Pediatric Endocrinology
- Neuroendocrinology
- Calcium Signaling
Background:
- Calcium ions (Ca2+) are essential second messengers regulating critical endocrine, neuronal, and metabolic functions.
- Proper calcium signaling is vital for growth, hormone balance, neuromuscular control, and neurodevelopment in children and adolescents.
Purpose of the Study:
- To review the multifaceted roles of calcium in pediatric hormone secretion, parathyroid and vitamin D metabolism, and neuronal excitability.
- To discuss genetic and metabolic disorders impacting calcium sensing and signaling pathways.
Main Methods:
- Literature review focusing on calcium's role in pediatric neuroendocrinology.
- Analysis of monogenic and metabolic disorders associated with calcium signaling.
Main Results:
- Calcium signaling disruptions are implicated in various pediatric endocrine diseases with neurological symptoms.
- Mutations in genes such as CASR, GNA11, AP2S1, STIM1, and ORAI1 affect calcium sensing and signaling.
Conclusions:
- Understanding calcium's role is crucial for diagnosing and managing pediatric neuroendocrine disorders.
- Future directions involve precision medicine approaches for early recognition and improved outcomes in pediatric neuroendocrinology.
Abstract:
Calcium ions (Ca2+) serve as universal second messengers regulating endocrine, neuronal, and metabolic processes. In children and adolescents, tight calcium signaling control is crucial for growth, hormone homeostasis, neuromuscular function, and neurodevelopment. Disruptions in Ca2+-dependent pathways-whether genetic, metabolic, or acquired-underlie a spectrum of pediatric endocrine diseases often presenting with neurological manifestations This review summarizes calcium's roles in hormone secretion, parathyroid and vitamin D metabolism, and neuronal excitability, and discusses monogenic and metabolic disorders affecting calcium sensing and signaling, including CASR, GNA11, AP2S1, STIM1, and ORAI1 mutations. Diagnostic challenges, therapeutic strategies, and future directions for precision medicine in pediatric neuroendocrinology are highlighted, emphasizing early recognition and improved clinical outcomes.
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