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Genetic Polymorphisms in Endocrinology

Meaning

Genetic polymorphisms in endocrinology refer to common variations in the DNA sequence (single nucleotide polymorphisms or SNPs) that occur across a population and influence the function of genes involved in hormone synthesis, transport, action, or metabolism. These subtle genetic differences can alter the structure or expression of hormone receptors, enzymes, or transport proteins, leading to inter-individual variability in hormonal responses and disease susceptibility. Understanding these polymorphisms is central to the emerging field of pharmacogenomics, allowing for the personalization of hormonal therapies and risk assessment. The presence of specific variants can dictate how an individual responds to hormone replacement or therapeutic agents.