Study of Polycystic Ovary Syndrome (PCOS) with Special Reference to Candidate Genes

Authors

  • Aamena Bharmal
  • Anjali Kulkarni
  • Yachana Jha

Keywords:

PCOS, genes associated with PCOS, risk factors, management, candidate genes for PCOS

Abstract

The PCOS (polycystic ovary syndrome) has become a worldwide concern as progression of PCOS in the age group of adolescence to postmenopausal women is increasing. In India, sudden rapid growth in PCOS is observed in the range of 3.7–22.5%. Effects of PCOS are not only on the reproductive and metabolic systems, but the whole body’s metabolism gets affected; ultimately, it leads to different life- style diseases like type 2 diabetes mellitus, dyslipidemia, gestational diabetes, hypertension, cardiovascular disorders and psychological disorders. As it is a multifactorial syndrome, many genes are responsible for the occurrence of this complex syndrome. Few candidate genes like CYP11A, CYP17, CYP17A, CYP19, CYP19A, androgen receptor gene, insulin gene, fat mass obesity gene and more mentioned in the article are responsible for PCOS development. For instance, for conversion of androgens into estrogens, aromatase is required. Mutations in such genes leads to ovary dysfunction and elevated levels of blood androgens. The gene responsible for insulin resistance is widely known as insulin gene (INS gene) which is involved for the same. Polymorphic variations in VNTR in INS gene have been reported to be interlinked with PCOS pathophysiology. Increased expression of steroidogenic enzymes is observed due to forced expression of variant in normal theca cells; ultimately, resulting in elevated levels of androgens. Polymorphic variations in FSH receptor gene lead to induction in FSH levels and development of resistance to gonadotropin-mediated syndrome. Inactivating mutations in luteinizing hormone\choriogonadotropin receptor (LHCGR) gene results in increased LH levels, irregular menstruation and infertility. However, increased levels of androgen in women indicates mutations. As PCOS is a very complex disorder. Being so, its management is also a difficult task. The females with family history of PCOS or directly affected with PCOS are advised to go for healthy lifestyle modifications such as balanced diet and proper physical activities.

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Published

2023-06-30

Issue

Vol. 13 No. 1 (2023)

Section

Review Article

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