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Chapter 2 - Polycystic Ovary Syndrome: From Phenotype to Genotype
- By Joop S. E. Laven, Yvonne V. Louwers
Edited by Gabor T. Kovacs, Bart Fauser, Richard S. Legro
Book:

Polycystic Ovary Syndrome

Published online:

13 May 2022

Print publication:

02 June 2022, pp 8-20
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Summary

The genetic underpinnings of polycystic ovary syndrome (PCOS) implicate neuroendocrine, metabolic and reproductive pathways in the pathogenesis of disease. Although specific phenotype stratified analyses are needed, genetic findings were surprisingly consistent across the diagnostic classifications using former National Institute of Health (NIH) , Rotterdam or AE-PCOS criteria suggesting a common genetic architecture underlying the different phenotypes. Genes identified until now all in some ways involved ovarian function and folliculogenesis. Indeed most of the identified single nucleotide polymorphisms (SNPs) were significantly associated with ovulatory dysfunction, hyperandrogenism and polycystic ovarian morphology (PCOM). Furthermore, there was also genetic evidence for shared biologic pathways between PCOS and a number of metabolic disorders, menopause, depression and male-pattern balding, a putative male phenotype.