Algerian Olympic boxer Imane Khelif, who won the gold medal in the women's 66kg boxing category at the 2024 Paris Olympics, has found herself in the middle of a gender-related debate. Reports accessed by French journalist Djaffar Ait Aoudia, as published in Reduxx, brought to light medical findings about Khelif's biological status, revealing that Khelif has "testicles" and an XY chromosome arrangement, thus confirming as 'biologically male'.

According to this report, Khelif has a medical condition known as 5-alpha reductase deficiency (5-ARD), a rare difference in sex development (DSD). Medical documents, allegedly from collaborations between France’s Kremlin-Bicêtre Hospital and Algeria’s Mohamed Lamine Debaghine Hospital, were reportedly compiled in June 2023. These reports outline that Khelif has internal testes and other characteristics atypical for female development.

An MRI and chromosomal tests confirmed the absence of a uterus and the presence of internal male reproductive organs. Furthermore, her testosterone levels were consistent with typical male ranges.

What are DSD?

DSD comprise the group of congenital conditions characterized by lack of typical sex development. In most cases, DSD can be identified in prenatal development due to interactions between complex genetic factors and hormone signals. Sometimes, people use the older term and refer to DSD as "intersex," while at other times they use some precise vocabulary to describe a given condition.

But first, what is 'Sex' and 'Gender'?

The terms "sex" and "gender" tend to be used almost interchangeably; however, they refer to two different things. "Sex" generally relates to the physical qualities determined by genetics and hormone influence, whereas "gender" refers to a human being's identity and social construction. DSD conditions can usually obscure the distinctions that are typical for sex, making talk around these terms particularly tricky.

DSD: Shattering genetic factors, Sex hormones and Genitalia

Genetic Factors

The genetic factors form the core of DSD conditions. Normally, a human being has 46 chromosomes, two of which decide the sex of the individual-the X and Y chromosomes. In most females, two X chromosomes are found, but in most males, an X and a Y chromosome are found. DSD can cause variations in such chromosomal patterns and hence sometimes lead to incongruity between chromosomal sex and physical attributes.

Sex Hormones

Sex hormones, including androgens in males and estrogens in females, determine body development both in fetal life and at puberty. Such hormones are produced in gonads, which could be either testes in a male or ovaries in a female, as prescribed by the genetic pattern. Hormonal pathways may therefore get affected in DSD such that sexual characteristics might appear in an atypical fashion.

Body Parts of Reproduction

DSD may result in the combination of male and female reproductive structures or in reproductive parts not typical male or female. A few have mixed genitals, but others may have typical genitals yet possess an unusual chromosomal setup that reveals itself at puberty or even later.

DSDs are as diverse as are the individuals affected by them. For example, some can be mentioned to be the following:

- In this case, one finds an individual with an XY chromosome yet having female-like external genitals.

- In other words, one has XX chromosomes but with male-like genitals.

- One can still have both ovarian and testicular tissues, meaning in such a case, you are likely to have genitals which might be a mix of a male and female.

- Some individuals have normal sex organs but an atypical arrangement of chromosomes, meaning changes in physical development over time.

The Cleveland Clinic notes that "intersex" has been the term used for decades in describing DSDs; however, terminology may vary among individuals and cultures. Some people with DSD prefer terms like 'differences' instead of 'disorders', arguing that DSD is just a variation in biological development.

According to a report in The Independent, "If I showed you pictures of my patients without any clothes on, you would say, well, these are females that I'm looking at," said Prof Højbjerg Gravholt, professor of genetic endocrinology in Denmark and works with patients who have differences in sex development.

He mentions that physical characteristics, hormonal profiles, or chromosomes cannot determine a person's sex uniquely. DSD in the lives of many presents the message that sex is not a biological category but rather a spectrum molded by genetic and hormonal diversity.

What Causes Disorders of Sex Development?

DSDs are caused by variations in genes that control sexual development or altered response to hormones such as those found in CAH. CAH presents as a result of excess androgen production with the development of male characteristics. Another type of DSD is the AIS where the body system is unable to respond to the presence of androgens thereby modifying physical development.

Is there a Treatment for DSD?

According to Cleveland Clinic, treatment of DSD is given based on the severity of the symptoms. These can vary from:

-Hormonal therapy for puberty and other conditions that may arise in connection with DSD, including osteoporosis.

-Genital reconstruction or modification surgery. Most of the surgeries are irreversible and thus left until the patient is capable of giving consent. For the very mild cases of DSD, no treatment is necessary and the individual may lead an untreated life.

Is It Possible to Prevent DSD?

Currently, DSDs can't be prevented. What is not well understood at present is the complex gene interactions that drive the development of human sex. No method has been developed that can predict or avoid DSDs in future offspring. That unpredictability reflects the normal variation in human biology.

Misleading signs are often worse than no signs, you may be working on the symptoms when the disease is already doing damage to your body. When something goes wrong in our body, most of us can catch onto it. However, we almost always tackle the most obvious issue, not knowing there could be something worse going on.

A similar issue happens to a UK-based woman, named, Loise who was suffering with high blood pressure and dismissed it as a symptom of menopause. Soon she found out that it was in fact not menopause that she was going through, rather she had been battling kidney cancer and did not know about it.

Cancer is the leading cause of death worldwide with nearly 10 million deaths in 2020. Cancer is a generic term for many different diseases that affect parts of one's body, according to the World Health Organization. Kidney cancer is the sixth most common cancer in UK adults and 14th most common cancer worldwide. According to Cancer Research UK, the average number of cases reported for kidney cancer in 2017-19 UK was 13,834. It is also more common in the elderly, aged 80-84, and there has been a 92% rise in the incidence rates of kidney cancer since the 1990s.

Misleading Symptoms and Important Warnings

In the Kidney Cancer UK's TikTok page, Louise's highlights the critical importance of recognizing that not all symptoms in middle-aged women are solely due to hormonal changes. In her case, the elevated blood pressure was an indicator of an aggressive form of kidney cancer.

Often, kidney cancer doesn't manifest with clear and distinct symptoms, and it is frequently discovered incidentally during tests conducted for other health concerns. Louise emphasized the challenge of diagnosis, "Symptoms are unfortunately vague, especially for women, as it includes high blood pressure, night sweats, blood in your urine and flank pain. GPs often relate these to menopause symptoms." She strongly advises everyone to "regularly scan your body" and to pay attention to persistent discomfort. She urged, "How long have those niggling pains been there? Get them checked - always better to be safe than sorry!"

What To Expect After The Diagnosis?

Reflecting on her own diagnosis, Louise recounted having "high blood pressure but unseen blood" in her urine. She explained how her cancer was detected, "I was lucky routine bloods picked up an issue with my liver, prompting ultrasound."

Her treatment journey involved significant surgical interventions, "I have now had two major surgeries to remove cancer and my kidney within the last 15 months. I'm three weeks post open surgery and recovering well." The outcome of recent tests brought encouraging news, "The news that all the biopsies came back as not cancer has been amazing."

Currently, Louise is managing side effects from her immunotherapy treatment. Looking ahead, Louise remains realistic but hopeful "My cancer was the most aggressive at grade 4 so there will always be a high chance of it coming back, but medications and research is changing all the time and I have faith that the surveillance scans will help us nip anything untoward in the bud!"

Kidney Cancer Symptoms You Should Look Out For

While kidney cancer often progresses without noticeable symptoms, the NHS indicates that when they do appear, they can include:

• Blood in your pee
• A lump or swelling in your back, under your ribs, or in your neck
• Persistent pain between your ribs and waist
• Unexplained loss of appetite or weight loss
• Persistent fatigue or lack of energy
• A recurring high temperature
• Excessive sweating, particularly at night

Throughout the first week of April, the state of Kentucky witnessed flooding, due to heavy rains, specifically in the Franklin County. The reason being, it is located on the Kentucky River for over 200 years. While such natural disasters can cause distress in terms of physical safety, expert also reveals that such natural disasters could impact one's mental health too.

Natural disasters like Kentucky's recent flooding can have serious impacts on victim's mental health, reveals Christal Badour, associate professor of psychology at the University of Kentucky and a trauma recovery research.

As reported in Weku NPR, the UK psychologist explains that reactions to traumatic events typically fall into short-term and long-term symptoms. These include people feeling overwhelmed, anxiety, and difficulty communicating. While most people eventually recover without lasting effects, some may struggle for a longer duration.

These long-term issues include depression or post-traumatic stress disorder (PTSD). Badour also notes that people who already had a mental health difficulty before the natural disaster could also further feel isolated. Along with that, individuals with fewer financial resources could be at more risk of long-term problems.

Are These Long-term Symptoms Common?

According to a report from Clinical Psychology Review, 20 to 80% of people will experience long-term symptoms after a disaster. These rates could vary depending on the type of disaster one faces. PTSD symptoms often improve after the first year, however, depression and anxiety are more likely to linger.

What Do Other Experts Say?

There have been previous studies too that confirm the same. As per a 2024 study, titled Impact of Natural Disasters on Mental Health: Evidence and Implications, by Eamin Z Heanoy and Norman R Brown, notes: "Natural disasters are large-scale catastrophic events, and they are increasing in frequency and severity. Converging evidence indicates that the mental health consequences of disasters are extensive and are often associated with trauma and the disruption of personal and socioeconomic factors in people’s lives."

However, the study also notes that although most individuals who experience disaster-related traumatic events do not develop mental illnesses, some could experience adverse psychological effects of the disaster.

Another expert, Nomy Levy-Carric, MD, MPhil, writes for Mass General Brigham, which is an institute dedicated to serving the community and enhancing patient care, teaching, and research, notes that natural disaster can indeed leave a lasting impact on individuals, families, and often an entire community.

Levy Carrick notes: "A person’s reaction depends on many factors, including their past experiences, what is happening in their life at that moment, the nature of their exposure, and the support available to them as they rebuild. The sudden loss of control and uncertainty can be overwhelming, making it harder to cope in both the short and long term."

What Are The Types Of Natural Disasters?

• Hurricanes and tropical storms
• Earthquakes
• Tornadoes
• Wildfire
• Floods
• Blizzards and winter storms
• Drought and extreme heat
• Landslides and mudslides

The doctor notes the Psychological First Aid or PFA provides a structured way to support emotional recovery immediately after a disaster.

However, notes Badour, there is still a major gap in treatment. Most disaster relief services only last up to one year.

“After that year has passed, a lot of people feel like there's no one there to help them, especially if you're in a community that was already lacking in mental health support and resources,” she said.

Emily Kramer-Golinkoff, 40, today struggles to take in enough oxygen with each breath. She is living with advances cystic fibrosis, which makes simple activities like walking or showering, exhausting for her. She is one of the 40,000 Americans who are affected and are living with the most common fatal genetic disease in the United States.

As per the National Heart, Lung, and Blood Institute, cystic fibrosis is a genetic condition that changes a protein in the body. The faulty protein then affects the body's cells, tissues, and the glands that make mucus and sweat. Cystic fibrosis cause mucus to become thick and sticky. As a result, it builds up and causes blockages, damages, or infections.

While most are born with this condition and continue to be on the medication throughout, for Kramer-Golinoff's rare genetic mutation cannot be managed by the same medication that help about 90% of cystic fibrosis patients.

"For our friends who have been lifting from the sinking ship, we feel such pure joy. But we just feel so eager and desperate to join them. It is really hard to be in this minority of people left behind," Kramer-Golinoff told the Associated Press (AP).

Rare Mutation And Its Challenges

The gap between patients with common and rare mutations is a growing concern. Advances in genetic science have uncovered the precise causes behind many brutal diseases, offering treatments to some but not all. Patients with rare mutations often face fewer treatment options and a much grimmer outlook.

Market forces contribute to the problem. Drug companies tend to focus on treatments that serve the largest groups of patients. “You need a sufficiently large number of patients in a major market in order for a company to be interested in going forward,” said Dr. Kiran Musunuru, a gene editing expert at the University of Pennsylvania. He described this reality as "mutational discrimination."

Charities, including Emily’s Entourage—a nonprofit co-founded by Kramer-Golinkoff—are working to change this. Their fundraising efforts have helped jump-start gene therapy research that could benefit patients with any mutation. Although these treatments are likely years away, "just to have these therapies in trials provides so much hope," she told the AP.

To Live With Cystic Fibrosis

Kramer-Golinoff was diagnosed with this condition at just six weeks old. “As I’ve gotten older … my CF has gotten worse, despite all my best efforts to delay it,” she shared with the AP. Before her condition worsened, she earned a master’s degree in bioethics from the University of Pennsylvania, traveled, worked, and spent time with friends. But over time, she developed CF-related diabetes and other complications, including frequent infections. Since the pandemic began, she has lived in isolation with her parents in Greater Philadelphia. “CF is a real monster of a disease,” she said.

Meanwhile, newer therapies known as CFTR modulators have dramatically improved life for many cystic fibrosis patients. However, these drugs don't work for those with rare or unknown mutations, often leaving people from underrepresented groups, including Black patients, at a disadvantage.

A Ray Of Hope

One promising solution is developing "mutation agnostic" gene therapies that would work for all patients, regardless of the specific genetic mutation. “There’s a huge push to develop these therapies," said Dr. Garry Cutting of the Johns Hopkins Cystic Fibrosis Center, as reported by AP.

The Cystic Fibrosis Foundation reports that 14 experimental gene therapies are currently in development. Many aim to deliver a healthy copy of the CFTR gene to patients' cells, enabling proper protein function.

Spirovant Sciences, a company partly funded by Emily’s Entourage, is sponsoring one such therapy. The first patient received it in a 53-week clinical trial at Columbia University last November.

Despite her worsening condition—living with 30% lung function, kidney issues, and pulmonary hypertension—Kramer-Golinkoff remains hopeful. “You have to make really conscientious choices … throughout the day on how to use your limited energy,” she told the AP. “We’re incredibly excited about the promise of gene therapies. They can’t come soon enough.”