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How genetic factors influence the onset and progression of Polycystic Ovary Syndrome
How genetic factors influence the onset and progression of Polycystic Ovary Syndrome

The Hindu

time05-07-2025

  • Health
  • The Hindu

How genetic factors influence the onset and progression of Polycystic Ovary Syndrome

Polycystic Ovary Syndrome (PCOS), a multifaceted endocrine-metabolic condition, is increasingly being recognised as not only a reproductive disorder but also a genetic and lifestyle-driven health challenge that affects a growing number of women across India. While clinical attention has often centred around irregular periods and infertility, recent studies and clinical experiences point to the crucial and often overlooked hereditary nature of this condition. 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.

Harvard gastroenterologist shares 4 tips to avoid bloating: ‘Eat kiwi or papaya to break down trapped gas'
Harvard gastroenterologist shares 4 tips to avoid bloating: ‘Eat kiwi or papaya to break down trapped gas'

Hindustan Times

time13-06-2025

  • Health
  • Hindustan Times

Harvard gastroenterologist shares 4 tips to avoid bloating: ‘Eat kiwi or papaya to break down trapped gas'

Are you someone who suffers from the discomfort caused by bloating? If yes, then some quick fixes could make your life better. Dr Saurabh Sethi, MD (gastroenterology and hepatology) and a Harvard-trained expert, often shares tips related to gut and liver health on social media. On June 13, he shared 4 tips that could help alleviate the discomfort of bloating. Also Read | Nutritionist shares what happens when you start eating berries, beetroot, prunes and other purple foods For the uninitiated, bloating is a condition where your belly feels full and tight, often due to gas. According to the Cleveland Clinic, it's usually a digestive issue, but hormones and stress also play a part. Let's find out the tips Dr Sethi shared to avoid bloating: A post shared by Saurabh Sethi (@ The gastroenterologist suggested eating kiwi or papaya to help break down trapped gas. Per a 2013 study, people who took a papaya-based formula for 40 days had significant improvement in constipation and bloating. The papain enzyme in papaya can make protein easier to digest. As for kiwi, it contains several key nutrients, including fibre, potassium, and actinidin, an enzyme that may help improve digestion and speed up stomach emptying, per Healthline. Therefore, eating it could reduce bloating. Dr Sethi suggested taking a short walk to stimulate natural movement. According to a report by SRM Global Hospitals, walking helps the gas to pass and provides relief. Engaging in a brisk 10–15-minute walk to facilitate the movement of gas through your digestive system relieves built-up bloatng. The gastroenterologist suggested considering simethicone to break up gas bubbles. Per the NHS, simethicone (or simeticone) is a type of medicine called an antiflatulent. It's used to treat farting (flatulence), trapped wind and bloating. People with irritable bowel syndrome (IBS) sometimes take simeticone to ease their symptoms. Although they stated that there isn't enough certainty whether it really works for these symptoms. Sipping peppermint tea can also help ease discomfort and cramping caused by bloating, Dr Sethi suggested. Studies show that peppermint relaxes the gut, which may relieve intestinal spasms and the bloating and pain accompanying them. Peppermint oil is also known for its antimicrobial properties. Note to readers: This article is for informational purposes only and not a substitute for professional medical advice. Always seek the advice of your doctor with any questions about a medical condition.

What your tongue says about your health
What your tongue says about your health

The Hindu

time12-06-2025

  • Health
  • The Hindu

What your tongue says about your health

Have you ever wondered why doctors often ask you to stick out your tongue during a routine check-up? While it may seem like a small, almost trivial request, this simple act serves as a crucial diagnostic tool. The tongue is a muscular organ made up of four main parts: the tip, body, root, and underside. The tip helps with speech and tasting sweet flavors. The body aids in chewing and tasting, while the root connects to the throat and assists with swallowing. The top surface (dorsum) has tiny bumps called papillae, which contain taste buds, while the smooth underside reveals blood vessels and helps absorb certain medicines. The tongue's movement and shape come from its strong muscles, making it essential for talking, eating, and tasting. There are several conditions that can affect the tongue -- such as tongue cancer, glossitis, thrush and other oral health issues which may impact its appearance or function. And beyond its essential roles in taste, chewing, and swallowing, the tongue can provide invaluable insights into health conditions, many of which may not yet show visible symptoms. Its appearance, texture, and coating can reveal key clues about your nutritional status, oral hygiene and even systemic health issues. Doctors across specialties emphasis that paying close attention to the condition of the tongue can serve as an early warning system for a wide range of underlying health issues. The link between the tongue and overall health Lokesh Mahajan, Head of Pediatrics at Marengo Asia Hospitals, Faridabad, explains, 'The tongue is not just a local indicator of oral health; it reflects broader systemic conditions. Conditions like vitamin deficiencies, thyroid disorders and even infections can manifest through noticeable changes in the tongue's appearance.' For example, a red, smooth tongue could indicate a deficiency in vitamin B12 or folic acid, while a white coating may point to a fungal infection such as candidiasis. Dr. Mahajan emphasises, 'A pale tongue may signal anemia, while an unusually red tongue could point to inflammation or systemic infection. These are subtle but important signals the body is giving us.' In paediatric care, changes in the tongue are also critical. P. Priyatharshini, consultant in Paediatric Critical Care at SRM Global Hospitals, Chennai, says, 'For children, conditions like Kawasaki Disease -- a syndrome, mainly affecting children under five, that causes a high fever and inflammation of the blood vessels, including the coronary arteries -- often present with a 'strawberry' tongue -- red, swollen, and with a bumpy texture. This is a critical sign that requires immediate attention.' She also points out that even systemic conditions like hypothyroidism can alter the tongue's appearance, with signs ranging from swelling to a glossy appearance. Dr. Priyatharshini adds, 'Certain rare diseases like sarcoidosis or rheumatoid arthritis can cause ulcers in the mouth, including the tongue, which can be mistaken for minor irritations if not examined closely.' Indicator of deficiencies and infections The tongue also serves as an indicator of nutritional deficiencies. Sneha Bokdia, consultant dentist, House of Tooth, Chennai, explains, 'A pale tongue often suggests iron deficiency anaemia. A red, smooth tongue, on the other hand, could be a sign of vitamin B12 or folate deficiency. Both of these conditions can be detected early by a simple examination of the tongue.' The tongue's coating is also important in identifying health issues. A thick white coating often signifies poor oral hygiene, which can lead to bacterial growth and bad breath. Dr. Bokadia highlights, 'If left untreated, poor oral hygiene can result in serious oral infections like oral candidiasis, especially in children..' Dr. Bokadia emphasises that children are particularly vulnerable to oral health problems. 'Conditions like stomatitis, which involve inflammation and redness of the tongue, are commonly seen in children due to poor nutrition or irritations caused by braces. These symptoms should never be ignored, as they can lead to more severe complications.' The connection between the tongue and systemic health is profound says Dr. Mahajan, 'A pale tongue can be a sign of anaemia, while a yellowish tongue may suggest liver issues or jaundice. A blue-tinged tongue often indicates a lack of oxygen in the blood, seen in conditions like cyanotic heart disease. Such changes in tongue colour are early warning signs and must not be ignored.' Dr. Priyatharshini highlights, 'Infective endocarditis, an infection of the heart valves, can sometimes be traced back to bacteria originating from the mouth. This is especially a concern for individuals with pre-existing heart conditions.' The role of oral hygiene and regular monitoring Gowri Shankar, senior consultant ENT specialist at SIMS Hospital, Chennai, points out, 'A healthy tongue can help maintain the balance of bacteria in the mouth, which is important for preventing systemic infections.' Dr. Shankar further explains, 'A dry, red tongue may indicate dehydration, while a tongue coated in food debris, bacteria, and dead cells can be a sign of poor oral hygiene. In some cases, conditions like macroglossia, an enlarged tongue, are seen in patients with thyroid disorders. This can lead to sleep apnea or snoring, which obstructs the airway.' She adds, 'Maintaining good oral hygiene can help avoid the buildup of harmful bacteria, which could otherwise enter the bloodstream and affect the heart or other organs. For instance, bacteria in the mouth can lead to endocarditis, a serious heart infection.' Regular checkups are essential in maintaining tongue health. Dr. Mahajan stresses, 'Routine dental and medical checkups are essential for early detection of potential issues. A thorough tongue examination should be part of these checkups, as it can provide critical clues about your overall health.' Maintaining good oral hygiene is vital, as Dr. Bokadia advises, 'Brushing twice daily with fluoride toothpaste, using a tongue cleaner, and avoiding excessive use of antibiotics are simple yet effective ways to keep the tongue clean and healthy. For children, starting oral care early --around six months of age-- can prevent long-term issues.' Dr. Shankar also recommends staying hydrated, eating a balanced diet, and using mouthwash after meals to help prevent bacterial growth on the tongue.'These steps not only help maintain oral hygiene but also reduce the risk of developing serious systemic issues.' The tongue is more than just a tool for taste; it is a valuable indicator of your health. As doctors across various specialties highlight, the appearance, texture, and coating of the tongue can provide early warning signs of nutritional deficiencies, systemic diseases and oral health problems. Regular checkups and attention to the tongue's condition can help detect potential issues before they become serious. As Dr. Priyatharshini sums it up, 'The tongue is often the first to show signs of trouble within the body. By observing it closely, we can take proactive steps towards maintaining our health, preventing complications, and improving quality of life.'

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