Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder affecting approximately 9.13% of women of reproductive age in South India. It is a major cause of oligomenorrhea, hirsutism, and anovulatory infertility. Despite extensive research, the etiology of PCOS remains elusive. Studies have indicated a hereditary component for various PCOS phenotypes in both female and male offspring, although the precise mode of inheritance remains unclear.
Objectives: To gather evidence supporting a genetic basis for Polycystic Ovary Syndrome (PCOS) by examining phenotypic characteristics in male and female relatives of PCOS patients.
To determine the mode of inheritance of PCOS phenotypes through pedigree analysis.
Methodology: 15 probands were recruited randomly from consenting patients diagnosed with PCOS as per the Rotterdam Criteria. Thorough examination of family history was used to assign affected status to relatives of each proband. Female relatives were assessed for degree of hirsutism using the modified Ferriman Gallwey (mFG) method as well as menstrual irregularities. Females with hirsutism (mFG score >7)canthosismale pattern hair loss along with menstrual irregularities were assigned as expressing PCOS phenotype. Male relatives were assessed for male pattern baldness (MPB) based on Hamilton-Norwood scale and early onset (<30 yrs. Old) MPB with score >4 was considered a PCOS phenotype. Pedigrees were mapped for each family and the pattern of inheritance traced. Segregation analysis was also employed to further ascertain the pattern of inheritance.
Results: Of the 15 pedigrees analysed, eight showed a simple Mendelian pattern of Autosomal Dominant Inheritance, seven showed an autosomal dominant pattern with incomplete penetrance in males.
Conclusion: Based on the thorough examination of family history and the phenotypic presentations of male and female relatives of patients affected by PCOS, evidence was obtained for the genetic basis of polycystic ovary syndrome (PCOS). The mode of inheritance of PCOS phenotypes was found to be consistent with an autosomal dominant pattern of inheritance. These findings suggest that first-degree family relatives of PCOS probands have a significantly higher risk of developing PCOS. Overall, the results of this study provide important insights into the heritability and mode of inheritance of PCOS, which can aid in the development of targeted prevention and treatment strategies for this common female endocrinopathy.
International Journal of Clinical Obstetrics and Gynaecology
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