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Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

Authors Khan MJ, Ullah A, Basit S

Received 12 September 2019

Accepted for publication 5 December 2019

Published 24 December 2019 Volume 2019:12 Pages 249—260


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Muhammad Jaseem Khan,1,* Anwar Ullah,1,* Sulman Basit2

1Institute of Paramedical Sciences, Khyber Medical University, Peshawar, Pakistan; 2Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarrah, Peshawar, Saudi Arabia

*These authors contributed equally to this work

Correspondence: Sulman Basit
Centre for Genetics and Inherited Diseases, Taibah University Madinah, Kingdom of Saudi Arabia
Tel +966535370209

Abstract: Polycystic ovary syndrome (PCOS) is a common infertility disorder affecting a significant proportion of the global population. It is the main cause of anovulatory infertility in women and is the most common endocrinopathy affecting reproductive-aged women, with a prevalence of 8–13% depending on the criteria used and population studied. The disease is multifactorial and complex and, therefore, often difficult to diagnose due to overlapping symptoms. Multiple etiological factors have been implicated in PCOS. Due to the complex pathophysiology involving multiple pathways and proteins, single genetic diagnostic tests cannot be determined. Progress has been achieved in the management and diagnosis of PCOS; however, not much is known about the molecular players and signaling pathways underlying it. Conclusively PCOS is a polygenic and multifactorial syndromic disorder. Many genes have been associated with PCOS, which affect fertility either directly or indirectly. However, studies conducted on PCOS patients from multiple families failed to find a fully penetrant variant(s). The present study was designed to review the current genetic understanding of the disease. In the present review, we have discussed the clinical spectrum, the genetics, and the variants identified as being associated with PCOS. The mechanisms by which variants in the genes confer risk to PCOS and the nature of the physical and genetic interaction between the genetic elements underlying PCOS remain to be determined. Elucidation of genetic players and cellular pathways underlying PCOS will certainly increase our understanding of the pathophysiology of this syndrome. The study also discusses the current status of the treatment modalities for PCOS, which is important to find new ways of treatment.

Keywords: PCOS, infertility, genetics, treatment

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