What is the Origin of Sex Hormone Pathway Genotyping?

This diagnostic discipline emerged from the Human Genome Project and the subsequent development of high-throughput genetic sequencing technologies, integrating genetics with classical endocrinology. The term combines the endocrine system's focus, 'sex hormone pathway,' with the genetic technique, 'genotyping,' to identify specific allelic variations. It is a modern application of pharmacogenomics.

What is the Mechanism of Sex Hormone Pathway Genotyping?

The mechanism involves sequencing or probing specific genetic loci, such as the CYP19A1 (aromatase) or the Androgen Receptor (AR) genes, to identify variations that alter enzyme activity or receptor sensitivity. For instance, a specific SNP in the aromatase gene can lead to higher or lower conversion of testosterone to estradiol. This information then informs the clinician's decision to proactively adjust therapeutic dosing or co-supplementation.

Sex Hormone Pathway Genotyping ∞ Area

Sex Hormone Pathway Genotyping

Meaning

Sex Hormone Pathway Genotyping is the molecular analysis of an individual’s DNA to identify specific single nucleotide polymorphisms (SNPs) in genes encoding enzymes, receptors, and transport proteins involved in the synthesis, metabolism, and action of sex hormones like testosterone and estrogen. This genetic insight helps predict individual variations in hormone efficacy, conversion rates, and the risk of developing hormone-related conditions. It is a critical tool for truly personalized hormone therapy.