A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

Thyroid disorders don’t just affect women — it also affects men and raise fertility risks, said experts today on World Thyroid Day.

While thyroid disorders are commonly linked to symptoms such as weight gain, fatigue, mood swings, and hair loss, experts highlighted a lesser-known impact of thyroid imbalance — its effect on male fertility and reproductive health.

Dr. Piyush Lodha, Endocrinologist at Ruby Hall Clinic, Pune, told HealthandMe that both hypothyroidism (underactive thyroid) and hyperthyroidism (overactive thyroid) can negatively affect sperm health and reproductive function in men.

“The thyroid regulates several important body functions, including metabolism and hormone balance. Even slight thyroid dysfunction can influence fertility because thyroid hormones are closely connected to reproductive hormones,” he explained.

How Thyroid Imbalance Affects Male Fertility

The doctors noted that thyroid hormones play an important role in sperm production, sperm maturation, libido, and sexual performance.

In hypothyroidism, reproductive processes may slow down significantly. Men may experience low testosterone levels, reduced libido, erectile dysfunction, and poor sperm quality.

Dr. Lodha noted that hypothyroidism can negatively affect sperm count, sperm motility, and sperm morphology, lowering the chances of successful conception. Fatigue, depression, and weight gain associated with thyroid disorders may further impact sexual health and self-esteem.

Hyperthyroidism can also affect fertility. Excess thyroid hormone may disturb the hormonal balance required for normal sperm production.

“In men, hyperthyroidism can lead to premature ejaculation, increased oxidative stress, and damage to sperm cells. In some cases, sperm concentration and semen volume may also decrease,” he said.

The expert warned that thyroid-related fertility issues often remain undiagnosed because symptoms develop gradually or are mistaken for stress and lifestyle-related problems.

Early Diagnosis Can Improve Outcomes

The expert stressed that timely diagnosis and treatment can significantly improve reproductive health.

“With hormonal therapy, dietary modifications, and regular monitoring, sperm health and reproductive function can improve over time,” Dr. Lodha explained.

He advised men experiencing unexplained infertility, sexual dysfunction, or persistent fatigue to undergo comprehensive reproductive health evaluations, including thyroid function tests.

Lifestyle Reasons Behind Surging Thyroid Disorders

Dr. Anu Mathew, Consultant Endocrinology, Fortis Hospital, Manesar, told HealthandMe that while women are more at risk, thyroid disorders can also affect men and children, and a lack of awareness often delays diagnosis.

She added that thyroid disorders are increasingly being linked to lifestyle-related factors, despite autoimmune disease remaining the most common cause.

Also read: Heatwaves And Toxic Air Create A Growing Health Crisis In Delhi

Dr. Anu pointed out that subclinical hypothyroidism (SCH) — characterized by elevated thyroid-stimulating hormone (TSH) with normal T3 and T4 levels — has shown strong associations with lifestyle factors in several studies.

“Both iodine deficiency and iodine excess have been associated with thyroid disorders. Lack of sleep, poor sleep quality, chronic stress, smoking, and sedentary lifestyles may also contribute to thyroid dysfunction,” she said.

According to experts, subclinical hypothyroidism has also been associated with increased risks of cardiovascular disease, insulin resistance, and metabolic syndrome.

The doctors, thus, stressed the importance of healthy lifestyle changes to prevent thyroid dysfunction and related complications.

When Thyroid Disorders Become Cancerous

Read More: Ebola Cases Cross 900, Death Toll Tops 200; 10 Countries On High Alert

Dr. Manjunath NML, Senior Consultant – Surgical Oncology and Robotic & Laparoscopic Surgeon at HCG Cancer Hospital, Bengaluru, told HealthandMe thyroid cancer is often difficult to detect early because it grows slowly and may initially cause painless or nonspecific symptoms.

“Small thyroid nodules may go unnoticed because they are not always visible or palpable during routine examinations,” he explained.

Detection may become even more challenging in obese patients, where larger nodules can remain hidden.

Doctors also highlighted that cancerous nodules may sometimes be concealed within multinodular goitre, a condition commonly associated with iodine deficiency and more frequently seen among women in endemic regions.

Other reasons for delayed diagnosis include lack of awareness, socioeconomic barriers, and limited access to specialists and diagnostic technologies such as ultrasound and FNAC (fine needle aspiration cytology).

Experts noted that imaging tools like the TIRADS (Thyroid Imaging Reporting and Data System) scoring system play an important role in classifying thyroid nodules as benign, suspicious, or malignant, helping guide appropriate treatment decisions.

The ongoing Ebola outbreak in Africa, with nearly 1,000 cases and over 200 deaths, has sparked concerns among people, bringing back memories of the COVID-19 pandemic. With every new outbreak, fears about viruses becoming airborne like SARS-CoV-2, the virus behind COVID-19, tend to rise.

However, experts have clarified that Ebola is not airborne and does not spread like COVID-19.

Why Ebola Spread Is Not Like COVID

“Ebola is a serious viral hemorrhagic disease,” said Dr. Ishwar Gilada, Secretary General, People’s Health Organisation (India).

“Ebola does NOT spread through casual airborne exposure like influenza or COVID-19. Individuals become infectious only after symptoms begin, not during the incubation period. The incubation period ranges from 2 to 21 days,” he added.

Former AIIMS Director Dr. Randeep Guleria told PTI that Ebola is “a zoonotic infection, mainly originating in bats.”

“Ebola does not spread through air like respiratory viruses. It spreads only through direct contact with infected body fluids,” he added.

Experts further explained that Ebola is far more difficult to spread than airborne respiratory viruses such as influenza, COVID-19, measles, and even the Andes strain of hantavirus, which recently caused an outbreak on a cruise ship.

“Ebola is not airborne. There's no evidence of that at all. To be infected, you've got to have body fluid contact with someone who is quite ill,” said Michael T. Osterholm, Director of the Center for Infectious Disease Research and Policy (CIDRAP) at the University of Minnesota.

According to Peter Hotez, Dean of the National School of Tropical Medicine at Baylor College of Medicine, people with Ebola do not spread the virus before developing symptoms.

The experts reiterated that during Ebola’s incubation period, which ranges from 2–21 days, an infected person is generally not contagious, unlike COVID-19, where transmission can occur before symptoms appear.

Moreover, even early Ebola symptoms such as fever, sore throat, headache, and body aches are less likely to spread the virus compared to respiratory infections.

Ebola does not spread through coughing, sneezing, or casual contact like shaking hands.

“You cannot get Ebola from passing someone in an airport, sitting near someone freely, or through other casual contacts,” explained Captain Satish K. Pillai, Incident Manager for Ebola Response at the US Centers for Disease Control and Prevention (CDC).

Also read: Ebola Cases Cross 900, Death Toll Tops 200; 10 Countries On High Alert

How Ebola Spreads

Ebola spreads through:

• Direct contact with infected blood or bodily fluids
• Contact with contaminated surfaces or medical equipment
• Unsafe caregiving exposure
• Traditional burial practices involving direct contact
• Certain zoonotic animal exposures

Common Symptoms Of Ebola

Common symptoms include:

• Sudden fever
• Severe weakness and fatigue
• Headache
• Muscle and body pain
• Sore throat
• Abdominal pain
• Vomiting and diarrhoea
• Rash

Severe illness may involve:

• Bleeding manifestations
• Shock
• Multi-organ dysfunction

Historical case fatality rates have ranged from 25% to 90%, depending on the virus strain, outbreak conditions, and access to timely medical care.

Ebola: How You Can Stay Safe

• Washing your hands often
• Avoiding contact with bodily fluids
• Avoiding contact with individuals who appear ill or who have a fever
• Avoiding objects that have come in contact with an infected individual, such as bedding, clothing or medical equipment
• Not handling someone who has died from Ebola
• Avoiding contact with bats and nonhuman primates, and raw meat from these animals
• Avoiding seeking medical care at hospitals where patients are being treated for Ebola
• Paying attention to your health for 21 days after returning from a country where Ebola has been found
• Seeking medical attention immediately if you experience any Ebola symptoms

How To Prepare Healthcare Systems

Dr Gilada stressed the importance of:

• Immediate isolation protocols for suspected cases
• PPE readiness across designated hospitals
• Emergency infection control drills and refresher training for healthcare workers
• Laboratory diagnostic preparedness with safe specimen handling
• Contact tracing systems
• Central and state public health coordination

The expert also urged authorities to strengthen “science, surveillance, preparedness, and infection control” to curb the spread of the disease.

Dr Guleria called for stricter infection control, timely isolation, and avoiding direct contact with infected persons remain key preventive measures. They also noted that Ebola outbreaks have largely remained confined to Africa due to effective containment efforts.

COVID-19 is not only a name but a terrible memory for the world, which made people stuck in their homes for months and caused thousands of deaths. Although after the advent of vaccines, normal life regained its pace, the impact of that turbulent time persists in everyday life. One example of a negative after-effect is the rising number of hip replacement surgeries among young Indians, which is, without a doubt, a worrying post-pandemic orthopaedic trend.

This very trend of rising cases of hip replacement surgeries is so serious that it was a major issue of discussion in the 2nd DELHI HIP 360 Conference, held at Crowne Plaza New Delhi. Where doctors reported a significant rise in cases of hip arthritis and avascular necrosis (AVN), a painful condition caused by disruption of blood supply to the hip bone, particularly among younger and middle-aged adults. The conference was organised by the Delhi Orthopaedic Association in association with the Indian Arthroplasty Association.

In the second edition of this conference, Dr. L Tomar, Organising Chairman of DELHI HIP 360 and Director, Department of Orthopaedics and Joint Replacement at Max Hospital, New Delhi, said, “We are observing 40% rise in hip replacement surgeries in younger people. Steroids played a life-saving role during the COVID pandemic, but indiscriminate or prolonged use in some patients has been associated with a rise in osteonecrosis and early degenerative changes in the hip joint." He also added that they are now seeing relatively younger patients coming with severe hip damage, collapse of the femoral head, and advanced arthritis requiring early hip replacement surgeries.

Dr. L Tomar further added, “India is witnessing a silent rise in hip disability due to a combination of post-COVID complications, obesity, sedentary lifestyle, trauma, alcohol consumption, and increasing life expectancy. Early diagnosis is critical because if AVN is detected in the initial stages, joint-preserving procedures may still be possible before destruction of the hip occurs.”

Dr. Karun Jain, Organising Secretary of the conference, said, “One of the biggest challenges with AVN is that patients often ignore early symptoms such as groin pain or stiffness, assuming it to be muscular pain. By the time they seek medical advice, the hip joint may already have undergone irreversible collapse. Awareness, timely MRI evaluation, and early intervention can help reduce disability.”

The conference has brought together leading orthopaedic surgeons, arthroplasty specialists, fellows, and residents from across India to deliberate on the latest advances in Total Hip Arthroplasty (THA), complex hip reconstruction, robotic-assisted surgery, rehabilitation, and management of post-COVID hip complications.

The experts at the conference emphasize that the AVN, which was thought of as a disease of the elderly, is no longer limited to a certain age bracket. It can affect young people as well due to the modern sedentary lifestyle. Thus, doctors at the conference are also expecting even greater demand for hip replacement surgeries.