How genetic factors influence the onset and progression of Polycystic Ovary Syndrome
Affecting an estimated 5 to 20 % of women of reproductive age in India, PCOS is now understood to be a spectrum disorder -- presenting differently across individuals. According to Dakshayani D., head of obstetrics and gynaecology at MGM Healthcare, Chennai, PCOS is a 'multisystemic pathology,' often seen with irregular cycles, weight gain, hirsutism (excessive growth of dark, coarse hair in women in a male-like pattern, typically on the face, chest and back), acanthosis nigricans (a skin condition characterised by dark, velvety and thickened patches of skin, often found in body folds like the neck, armpits and groin) and in some cases, infertility. She notes that some women may show classical ultrasound findings of multiple peripheral ovarian cysts and increased ovarian volume, while others may have no cysts at all.
'PCOS is not a uniform disease; it manifests differently from lean PCOS to obese PCOS with symptoms such as male-pattern hair growth, scanty or heavy bleeding and insulin resistance varying in severity,' she adds.
The genetic element
The strong familial clustering of PCOS has led clinicians to view genetics as a significant component in its development. 'There is strong clinical evidence that the condition runs in families,' says R.K. Vidhyalakshmi, lead consultant in obstetrics and gynaecology at SRM Global Hospitals, Chennai. 'First-degree relatives -- mothers, sisters and daughters have a significantly increased risk.'
Genomic studies support these clinical observations. Variants in genes such as CYP11a, CYP17, CYP19, INSR, LHR, FSHR, and DENND1A -- all involved in steroid hormone synthesis and ovarian function have been identified in women with PCOS. 'PCOS is a polygenic disorder with no single causative gene,' explains Mannan Gupta, chairman, department of obstetrics and gynaecology at Elantis Healthcare, New Delhi. 'Instead, several gene variants act together with environmental triggers.'
Sapna Raina, clinical lead at Narayana Health City, notes that the risk of developing PCOS in women with a family history can be as high as 25–50 %, further underscoring the need for early surveillance in adolescent girls with known familial risk.
Early recognition is key
Given its variable presentation, early detection of PCOS often depends on clinical vigilance and awareness of familial risk. Dhivya Sharona, consultant gynaecologist at Rela Hospital, Chennai, stresses the need to distinguish PCOS from PCOD -- the latter being a condition limited to ovulatory dysfunction. 'PCOS is broader, and includes metabolic and androgenic symptoms even in the absence of ovarian cysts.' She highlights the increasing prevalence among young Indian women, attributing it to a combination of genetic predisposition and lifestyle factors such as poor dietary habits, high stress and sedentary behaviour.
Hormonal screening -- including LH, FSH, AMH, testosterone, prolactin, estradiol, DHEAS, TSH and progesterone -- along with imaging (preferably 3D ultrasonography), enables more accurate assessment of ovarian morphology. '3D USG offers a reliable view of stromal volume and blood flow, which are critical in PCOS evaluation,' adds Dr. Dakshayani.
Lifestyle intervention and preventive care
Despite its hereditary links, PCOS is highly modifiable through early lifestyle adjustments. 'Maintaining a healthy weight, avoiding refined carbohydrates, and engaging in regular physical activity can delay or even prevent the onset of symptoms in at-risk individuals,' says Dr. Gupta. He also recommends stress management, sleep hygiene, and periodic hormonal evaluation for adolescent girls with family history.
'Even a 5–10% weight loss can help regulate menstrual cycles and improve insulin sensitivity,' says Dr. Vidhyalakshmi, adding that prevention starts with education and personalised counselling.
Dr. Raina stresses early behavioural interventions in families known to carry a genetic risk. 'Families often share not just genes but habits. Encouraging healthier food choices, reducing processed food intake and promoting physical activity from adolescence can alter outcomes significantly.'
Emerging therapies and personalised approaches
As understanding of PCOS deepens, treatment is moving towards individualised care models. 'Pharmacogenomics and polygenic risk scoring are being explored to customise treatment based on genetic profiles,' notes Dr. Gupta. 'This will enable clinicians to predict which patients are likely to respond better to specific hormonal or metabolic therapies.'
For hirsutism, Dr. Sharona recommends laser hair reduction for long-term improvement, though medications like spironolactone, finasteride and Eflornithine-based topical creams can offer temporary relief.
Therapies such as metformin, myoinositols, oral contraceptives and ovulation-inducing agents like Clomiphene, Letrozole and gonadotrophins are tailored based on whether the primary concern is infertility, metabolic imbalance, or hyperandrogenism.'There's no universal treatment for PCOS -- each patient's symptoms and hormonal profile guide the management,' emphasises Dr. Sharona.
Despite its high prevalence, PCOS remains underdiagnosed and underreported. 'The social stigma and silence around menstrual health contributes to delays in diagnosis,' says Dr. Raina. 'It is time we normalise conversations around PCOS within families and schools.'
With clinical evidence pointing strongly towards hereditary transmission, clinicians believe that family history must be considered a key diagnostic tool -- not just a background detail. By raising awareness, integrating preventive care early and leveraging advances in genetic research, it may be possible to change the trajectory of PCOS for future generations.
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