Polycystic ovary syndrome: dissecting the genetics, phenotype and health outcomes of a heterogeneous condition

Kharis Burns

Research output: ThesisDoctoral Thesis

257 Downloads (Pure)

Abstract

PCOS is a clinically heterogeneous condition. Distinct subtypes may exist with varying clinical and biochemical features, morbidity, and mortality. Subtypes may be due to unique pathophysiology attributable to genetic differences and environmental influences. This thesis aims to explore PCOS as a genetically and phenotypically heterogeneous condition with varied effects on health outcomes. Five studies have been conducted examining genetic associations, clinical features, and morbidity/mortality in PCOS-affected women. This research confirms PCOS subtypes, differing in BMI, biochemical profiles, and morbidity. Subtypes display distinct genetic architecture signifying unique pathophysiologies and may be considered separate entities with individual diagnostic criteria and treatment modalities.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Stuckey, Bronwyn, Supervisor
  • Wilson, Scott, Supervisor
  • Watts, Gerald, Supervisor
  • Sanfilippo, Frank, Supervisor
Thesis sponsors
Award date21 Jun 2024
DOIs
Publication statusUnpublished - 2024

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