Abstract
This chapter presents an overview of the gene polymorphisms underlying the functions of ovarian receptors and their clinical implications in the female fecundity. A selection of genetic studies revealing significant associations between receptor polymorphisms, gene mutations, and some pathological conditions (i.e., female infertility, premature ovarian failure, polycystic ovary syndrome, endometriosis) are reviewed.
MeSH terms
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Endometriosis
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Female
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Fertility / genetics*
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Follicle Stimulating Hormone / genetics*
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Genetic Predisposition to Disease
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Humans
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Luteinizing Hormone / genetics*
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Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
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Molecular Biology / methods
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Mutation
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Polycystic Ovary Syndrome / genetics
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Polycystic Ovary Syndrome / pathology
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Polymorphism, Single Nucleotide / genetics
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Primary Ovarian Insufficiency / genetics
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Primary Ovarian Insufficiency / pathology
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Receptors, Progesterone / genetics*
Substances
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Receptors, Progesterone
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Luteinizing Hormone
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Follicle Stimulating Hormone
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MTHFR protein, human
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Methylenetetrahydrofolate Reductase (NADPH2)