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Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review
by
Moreno Celis, Ulisses
, Rodríguez-García, Víctor Manuel
, Aguilar-Galarza, Adriana
, García-Gasca, Teresa
, Cepero-González, María de los Angeles
in
Anopheles
/ Calpain
/ candidate genes
/ Cardiovascular diseases
/ Diagnosis
/ Genes
/ Genetic aspects
/ Genetic polymorphisms
/ Hydroxylases
/ Hydroxyprogesterone
/ hyperandrogenism
/ Hypothalamus
/ Infertility
/ Insulin
/ Insulin resistance
/ Lipid metabolism
/ Menstruation
/ Metabolic disorders
/ Obesity
/ ovarian dysfunction
/ Ovaries
/ Pathophysiology
/ Pharmacogenetics
/ Pituitary
/ Polycystic ovary syndrome
/ Polymorphism
/ polymorphisms
/ Precision medicine
/ Review
/ Stein-Leventhal syndrome
/ Steroid 21-hydroxylase
/ Steroid hormones
/ Steroidogenesis
/ Type 2 diabetes
2026
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Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review
by
Moreno Celis, Ulisses
, Rodríguez-García, Víctor Manuel
, Aguilar-Galarza, Adriana
, García-Gasca, Teresa
, Cepero-González, María de los Angeles
in
Anopheles
/ Calpain
/ candidate genes
/ Cardiovascular diseases
/ Diagnosis
/ Genes
/ Genetic aspects
/ Genetic polymorphisms
/ Hydroxylases
/ Hydroxyprogesterone
/ hyperandrogenism
/ Hypothalamus
/ Infertility
/ Insulin
/ Insulin resistance
/ Lipid metabolism
/ Menstruation
/ Metabolic disorders
/ Obesity
/ ovarian dysfunction
/ Ovaries
/ Pathophysiology
/ Pharmacogenetics
/ Pituitary
/ Polycystic ovary syndrome
/ Polymorphism
/ polymorphisms
/ Precision medicine
/ Review
/ Stein-Leventhal syndrome
/ Steroid 21-hydroxylase
/ Steroid hormones
/ Steroidogenesis
/ Type 2 diabetes
2026
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Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review
by
Moreno Celis, Ulisses
, Rodríguez-García, Víctor Manuel
, Aguilar-Galarza, Adriana
, García-Gasca, Teresa
, Cepero-González, María de los Angeles
in
Anopheles
/ Calpain
/ candidate genes
/ Cardiovascular diseases
/ Diagnosis
/ Genes
/ Genetic aspects
/ Genetic polymorphisms
/ Hydroxylases
/ Hydroxyprogesterone
/ hyperandrogenism
/ Hypothalamus
/ Infertility
/ Insulin
/ Insulin resistance
/ Lipid metabolism
/ Menstruation
/ Metabolic disorders
/ Obesity
/ ovarian dysfunction
/ Ovaries
/ Pathophysiology
/ Pharmacogenetics
/ Pituitary
/ Polycystic ovary syndrome
/ Polymorphism
/ polymorphisms
/ Precision medicine
/ Review
/ Stein-Leventhal syndrome
/ Steroid 21-hydroxylase
/ Steroid hormones
/ Steroidogenesis
/ Type 2 diabetes
2026
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Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review
Journal Article
Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review
2026
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Overview
This study reviews the main candidate genes involved in the pathophysiology of Polycystic Ovary Syndrome (PCOS). PCOS is a common endocrine–metabolic disorder in women of reproductive age, characterized by menstrual irregularity, hyperandrogenism, and polycystic ovarian morphology. It is associated with increased metabolic and cardiovascular risk and is a leading cause of infertility. Although its pathophysiology is not fully understood, alterations in the hypothalamic–pituitary–ovarian axis, insulin metabolism, and steroidogenesis have been described. Polymorphisms in genes encoding hormones, enzymes, and receptors in these pathways contribute to clinical variability and ethnic differences, offering potential for early diagnosis and personalized medicine. This review summarizes key candidate genes related to insulin metabolism (INS, INSR, IRS-1), the hypothalamic–pituitary–ovarian axis (LHβ, LHCGR, FSHR, GnRHR, AMH, AMHR2, KISS1, CAPN10), steroidogenesis (CYP11A, CYP17A1, CYP19A1, CYP21, 17β-HSD, SHBG, AR, STAR), and other clinically relevant mechanisms such as obesity, lipid metabolism (PPARG, VDR, FTO), and follicular development (ACE).
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