An Investigation of Steroid Biosynthesis Pathway Genes in Women with Polycystic Ovary Syndrome.

ABSTRACT:

Background

Polycystic ovary syndrome (PCOS) is a common endocrinopathy whose heterogeneous genetic basis results in a variable clinical presentation. One of the main clinical features of PCOS is hyperandrogenism which occurs due to dysregulation of ovarian and adrenal steroidogenesis.

Aims

This study aimed to investigate potentially pathogenic variants in steroidogenic genes associated with PCOS.

Settings and design

This was a hospital-based observational study.

Materials and methods

We recruited 51 women who presented with PCOS. Fasting blood samples were drawn from the participants and their whole-exome sequencing analysis was carried out to look for pathogenic variants involved in steroidogenic pathways. The variants were predicted for their probable deleter

SUBMITTER: Sharma P 

PROVIDER: S-EPMC9635380 | biostudies-literature | 2022 Jul-Sep

REPOSITORIES: biostudies-literature