Klinefelter syndrome – what is Klinefelter syndrome and what are the signs and symptoms of the condition!

Klinefelter syndrome
Klinefelter syndrome

Introduction

Klinefelter syndrome (sometimes called Klinefelter’s, KS or XXY) is where boys and men are born with an extra X chromosome.

Chromosomes are packages of genes found in every cell in the body. Two types of chromosome, called the sex chromosomes, determine the genetic sex of a baby. These are named either X or Y.

Usually, a female baby has two X chromosomes (XX) and a male has one X and one Y (XY). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY).

The X chromosome is not a “female” chromosome and is present in everyone. The presence of a Y chromosome denotes male sex.

Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment.

Klinefelter syndrome is quite common, affecting around 1 in every 660 males.

 

Symptoms of Klinefelter syndrome

Klinefelter syndrome doesn’t usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot.

Many boys and men don’t realise they have it.

  • in babies and toddlers – learning to sit up, crawl, walk and talk later than usual, being weaker, quieter and more passive than usual

     

    in childhood – shyness and low self-confidence, problems with reading, writing, spelling and paying attention, mild dyslexia and/or dyspraxia, low energy levels, difficulty socialising or expressing feelings

    in teenagers – growing taller than expected for the family (with long arms and legs), broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, a small penis and testicles, enlarged breasts (gynaecomastia)

    in adulthood – inability to have children naturally (infertility) and a low sex drive, in addition to the physical characteristics mentioned above

Health issues in Klinefelter syndrome

Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives.

Infertility tends to be the main problem, although there are treatments that can help (see Treatments below).

However, men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including:

type 2 diabetes

weak and fragile bones (osteoporosis)

cardiovascular disease and blood clots

autoimmune disorders (where the immune system mistakenly attacks the body), such as lupus

an underactive thyroid gland (hypothyroidism)

anxiety, learning difficulties and depression – although intelligence is usually unaffected

male breast cancer – although this is very rare

These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them.

Causes of Klinefelter syndrome

Klinefelter syndrome is caused by an additional X chromosome.

This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.

The extra genetic information may either be carried in every cell in the body or it may only affect some cells (known as mosaic Klinefelter syndrome).

Klinefelter syndrome isn’t directly inherited – the additional X chromosome occurs as a result of either the mother’s egg or the father’s sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY.

This change in the egg or sperm seems to happen randomly. If you have a son with the condition, the chances of this happening again are very small.

However, the risk of a woman having a son with Klinefelter syndrome may be slightly higher if the mother is over 35 years of age.

Testing for Klinefelter syndrome

See your GP if you have concerns about your son’s development or you notice any troubling symptoms of Klinefelter syndrome in yourself or your son.

Klinefelter syndrome isn’t necessarily anything serious, but treatment can help reduce some of the symptoms if necessary.

In many cases, it’s only detected if a man with the condition undergoes fertility tests.

Your GP may suspect Klinefelter syndrome after a physical examination and they may suggest sending off a sample of blood to check reproductive hormone levels.

The diagnosis can be confirmed by checking a sample of blood for the presence of the extra X chromosome.

Treatments for Klinefelter syndrome

There’s no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary.

Possible treatments include:

testosterone replacement therapy (see below)

speech and language therapy during childhood to help with speech development

educational and behavioural support at school to help with any learning difficulties or behaviour problems

occupational therapy to help with any co-ordination problems associated with dyspraxia

physiotherapy to help build muscle and increase strength

psychological support for any mental health issues

fertility treatment – options include artificial insemination using donor sperm or possibly intra-cytoplasmic sperm injection (ICSI), where sperm removed during a small operation are used to fertilise an egg in a laboratory

breast reduction surgery to remove excess breast tissue

Testosterone replacement therapy

TRT involves taking medication containing testosterone. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men.

TRT may be considered once puberty begins and may help with the development of a deep voice, facial and body hair, an increase in muscle mass, reduction in body fat, and improvement in energy. You should see a specialist in children’s hormones (a paediatric endocrinologist) at this time.

Long-term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome – including osteoporosis, low mood, reduced sex drive, low self-esteem and low energy levels – although it can’t reverse infertility.

More information and support

If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it.

The following websites may be able to help:

Klinefelter’s Syndrome Association UK

Klinefelter Organisation

Contact a Family

Floaters – so what are Floaters and why are they a health problem?

Floaters are small shapes that some people see floating in their field of vision.
Floaters are small shapes that some people see floating in their field of vision.

Floaters are small shapes that some people see floating in their field of vision.

They can be different shapes and sizes and may look like:

tiny black dots

small, shadowy dots

larger cloud-like spots

long, narrow strands

You may have many small floaters in your field of vision or just one or two larger ones. Most floaters are small and quickly move out of your field of vision.

Floaters are often most noticeable when you’re looking at a light-coloured background, such as a white wall or clear sky.

Do floaters affect vision?

Floaters sometimes occur without a person noticing them. This is because the brain constantly adapts to changes in vision and learns to ignore floaters so they don’t affect vision.

Floaters are usually harmless and don’t significantly affect your vision. However, it’s important you have your eyes checked by an optician regularly (at least once every two years).

Larger floaters can be distracting and may make activities involving high levels of concentration, such as reading or driving, difficult.

Find an optician near you.

What causes floaters?

Floaters are small pieces of debris that float in the eye’s vitreous humour. Vitreous humour is a clear, jelly-like substance that fills the space in the middle of the eyeball.

The debris casts shadows on to the retina (the light-sensitive tissue lining the back of the eye). If you have floaters, it’s these shadows you’ll see.

Floaters can occur as your eyes change with age. In most cases, they don’t cause significant problems and don’t require treatment.

In rare cases, floaters may be a sign of a retinal tear or retinal detachment (where the retina starts to pull away from the blood vessels that supply it with oxygen and nutrients).

Read more about the causes of floaters.

Floaters can’t be prevented because they’re part of the natural ageing process.

When to seek medical help

Visit your optician immediately if you notice an increase or sudden change in your floaters, particularly if you notice white flashes and some loss of vision.

Your optician may refer you to an ophthalmologist (a specialist in diagnosing and treating eye conditions) who can check your retina for tears or retinal detachment.

Even though floaters are usually harmless and don’t significantly affect your vision, it’s important you have your eyes checked regularly by an optician (at least once every two years).

Read more about diagnosing floaters.

Treating floaters

In most cases, floaters don’t cause major problems and don’t require treatment. Eye drops or similar types of medication won’t make floaters disappear.

After a while, your brain learns to ignore floaters and you may not notice them.

If your floaters don’t improve over time, or if they significantly affect your vision, a vitrectomy may be recommended. This is a surgical operation to remove the vitreous humour in your eye along with any floating debris and replace it with a saline (salty) solution.

If your retina has become detached, surgery is the only way to re-attach it. Without surgery, a total loss of vision is almost certain. In 90% of cases, only one operation is needed to re-attach the retina.

Read more about treating floaters.

Gilbert’s syndrome – what are the signs and symptoms of Gilbert’s syndrome?

Gilbert's syndrome
Gilbert’s syndrome

Introduction

In Gilbert’s syndrome, slightly higher than normal levels of a substance called bilirubin build up in the blood.

Bilirubin is a yellow substance found naturally in the blood. It forms as a by-product when old red blood cells are broken down.

Symptoms of Gilbert’s syndrome

Most people with Gilbert’s syndrome experience occasional and short-lived episodes of jaundice (yellowing of the skin and whites of the eyes) due to the build-up of bilirubin in the blood.

As Gilbert’s syndrome usually only causes a slight increase in bilirubin levels, the yellowing of jaundice is often mild. The eyes are usually affected most.

Some people also report other problems during episodes of jaundice, including:

abdominal (tummy) pain

feeling very tired (fatigue)

loss of appetite

feeling sick

dizziness

irritable bowel syndrome (IBS) – a common digestive disorder that causes stomach cramps, bloating, diarrhoea and constipation

problems concentrating and thinking clearly (brain fog)

a general sense of feeling unwell

However, these problems aren’t necessarily thought to be directly related to increased bilirubin levels, and could indicate a condition other than Gilbert’s syndrome.

Around one in three people with Gilbert’s syndrome don’t experience any symptoms at all. Therefore, you may not realise you have the syndrome until tests for an unrelated problem are carried out.

When to see your GP

See your GP if you experience an episode of jaundice for the first time.

The jaundice of Gilbert’s syndrome is usually mild, but jaundice can be associated with more serious liver problems, such as cirrhosis or hepatitis C.

It’s therefore important to seek immediate medical advice from your GP if you have jaundice. If you can’t get in touch with your GP, contact NHS 111 or your local out-of-hours service for advice.

If you’ve been diagnosed with Gilbert’s syndrome (see below), you don’t usually need to seek medical advice during an episode of jaundice, unless you have additional or unusual symptoms.

What causes Gilbert’s syndrome?

Gilbert’s syndrome is a genetic disorder that’s hereditary (it runs in families). People with the syndrome have a faulty gene which causes the liver to have problems removing bilirubin from the blood.

Normally, when red blood cells reach the end of their life (after about 120 days), haemoglobin – the red pigment that carries oxygen in the blood – breaks down into bilirubin.

The liver converts bilirubin into a water-soluble form, which passes into bile and is eventually removed from the body in urine or stools. Bilirubin gives urine its light yellow colour and stools their dark brown colour.

In Gilbert’s syndrome, the faulty gene means that bilirubin isn’t passed into bile (a fluid produced by the liver to help with digestion) at the normal rate. Instead, it builds up in the bloodstream, giving the skin and white of the eyes a yellowish tinge.

Other than inheriting the faulty gene, there are no known risk factors for developing Gilbert’s syndrome. It isn’t related to lifestyle habits, environmental factors or serious underlying liver problems, such as cirrhosis or hepatitis C.

What triggers the symptoms?

People with Gilbert’s syndrome often find there are certain triggers that can bring on an episode of jaundice.

Some of the possible triggers linked with the condition include:

being dehydrated

going without food for long periods of time (fasting)

being ill with an infection

being stressed

physical exertion

not getting enough sleep

having surgery

in women, having their monthly period

Where possible, avoiding known triggers can reduce your chance of experiencing episodes of jaundice.

Who’s affected

Gilbert’s syndrome is common, but it’s difficult to know exactly how many people are affected because it doesn’t always cause obvious symptoms.

In the UK, it’s thought that at least 1 in 20 people (probably more) are affected by Gilbert’s syndrome.

Gilbert’s syndrome affects more men than women. It’s usually diagnosed during a person’s late teens or early twenties.

Diagnosing Gilbert’s syndrome

Gilbert’s syndrome can be diagnosed using a blood test to measure the levels of bilirubin in your blood and a liver function test.

When the liver is damaged, it releases enzymes into the blood. At the same time, levels of proteins that the liver produces to keep the body healthy begin to drop. By measuring the levels of these enzymes and proteins, it’s possible to build up a reasonably accurate picture of how well the liver is functioning.

If the test results show you have high levels of bilirubin in your blood, but your liver is otherwise working normally, a confident diagnosis of Gilbert’s syndrome can usually be made.

In certain cases, a genetic test may be necessary to confirm a diagnosis of Gilbert’s syndrome.

Living with Gilbert’s syndrome

Gilbert’s syndrome is a lifelong disorder. However, it doesn’t require treatment because it doesn’t pose a threat to health and doesn’t cause complications or an increased risk of liver disease.

Episodes of jaundice and any associated symptoms are usually short-lived and eventually pass.

If you have Gilbert’s syndrome, there’s no reason to modify your diet or the amount of exercise you do, and the recommendations about eating a healthy, balanced diet and the physical activity guidelines still apply.

However, you may find it useful to avoid the things you know trigger episodes of jaundice, such as dehydration and stress.

If you have Gilbert’s syndrome, the problem with your liver may also mean you’re at risk of developing jaundice or other side effects after taking certain medications. Therefore, seek medical advice before taking any new medication and make sure you mention to any doctors treating you for the first time that you have the syndrome.

Medications that shouldn’t be taken if you have Gilbert’s syndrome, unless advised by a doctor, include some types of HIV med, some types of medication for high cholesterol, and some chemotherapy.

Glomerulonephritis – what are the signs and symptoms of Glomerulonephritis?

Glomerulonephritis
Glomerulonephritis

Glomerulonephritis

Glomerulonephritis is damage to the tiny filters inside your kidneys (the glomeruli). It’s often caused by your immune system attacking healthy body tissue.

Glomerulonephritis doesn’t usually cause any noticeable symptoms. It’s more likely to be diagnosed when blood or urine tests are carried out for another reason.

Although mild cases of glomerulonephritis can be treated effectively, for some people the condition can lead to long-term kidney problems.

 

Symptoms of glomerulonephritis

In severe cases of glomerulonephritis, you may see blood in your urine. However, this is usually noticed when a urine sample is tested.

Your urine may be frothy if it contains a large amount of protein.

If a lot of protein leaks into your urine, swelling of the legs or other parts of the body (oedema) can also develop. This is known as nephrotic syndrome.

Depending on your type of glomerulonephritis, other parts of your body can be affected and cause symptoms such as:

  • rashes
  • joint pain
  • breathing problems
  • tiredness

Many people with glomerulonephritis also have high blood pressure.

When to get medical advice

See your GP if you notice blood in your urine. This doesn’t always mean you have glomerulonephritis, but the cause should be investigated.

If your GP suspects glomerulonephritis, they'll usually arrange:

  • blood test - to measure your creatinine level; if your kidneys aren't working normally, the creatinine level in your blood rises and estimated glomerular filtration rate (eGDR) falls
  • a urine test - to check for blood or protein in your urine, either by dipping special strips into a sample of your urine or sending the sample to a laboratory for further testing

If glomerulonephritis is confirmed, further blood tests may be needed to help determine the cause.

If your kidney problem needs to be investigated further, it may be recommended that you have:

  • an ultrasound scan - this is to check the size of your kidneys, make sure there are no blockages, and look for any other problems
  • biopsy - this is to remove a small sample of kidney tissue, carried out using local anaesthetic to numb the area; an ultrasound machine locates your kidneys and a small needle is used to take a sample

Causes of glomerulonephritis

Glomerulonephritis is often caused by a problem with your immune system. It's not clear exactly why this happens, although sometimes it's part of a condition such as systemic lupus erythematosus (SLE) or vasculitis.

In some cases, the immune system abnormalities are triggered by an infection, such as:

In most cases, glomerulonephritis doesn't run in families.

If you're diagnosed with an inherited type of glomerulonephritis, your doctor can advise you about the chances of someone else in your family being affected.

They may recommend screening, which can identify people who may be at increased risk of developing the condition.

Treating glomerulonephritis

Treatment for glomerulonephritis depends on the cause and severity of your condition. Mild cases may not need any treatment.

Treatment can be as simple as making changes to your diet, such as eating less salt to reduce the strain on your kidneys.

Medication to lower blood pressure, such as angiotensin-converting enzyme (ACE) inhibitors, is commonly prescribed because they help protect the kidneys.

If the condition is caused by a problem with your immune system, medication called immunosuppressants may be used.

Read about treating glomerulonephritis.

Complications of glomerulonephritis

Although treatment for glomerulonephritis is effective in many cases, further problems can sometimes develop.

These include:

If you're diagnosed with glomerulonephritis, your doctor may prescribe medication to help lower your blood pressure, lower your cholesterol or protect against blood clots.

Tay-Sachs disease – what are the signs and symptoms of Tay-Sachs disease?

Tay-Sachs disease
Tay-Sachs disease

Introduction

Tay-Sachs disease is a rare and usually fatal genetic disorder that causes progressive damage to the nervous system.

Symptoms usually begin before a baby is six months old. Their development slows down and they gradually lose their ability to move.

The most noticeable early symptoms include a baby being excessively startled by sudden noises and red dots appearing near the middle of their eyes.

The child then develops problems such as muscle weakness, loss of vision, loss of hearing and seizures.

Most children with the condition die before they’re four years old.

Less common forms of Tay-Sachs disease can begin later in childhood or even early adulthood. These usually progress less rapidly, although it’s usually fatal.

Read more about the symptoms of Tay-Sachs disease.

What causes Tay-Sachs disease?

Tay-Sachs disease is caused by a mutation in the HEXA gene. A genetic mutation is a permanent alteration in the DNA sequence that makes up a gene. It causes one or more processes of the body to not work properly.

A mutated HEXA gene results in the body not producing an enzyme called Hexosaminidase-A (Hex-A). Without this enzyme, a fatty substance called GM2 ganglioside builds up in the cells of the brain and nerves, and stops them working normally, eventually destroying them.

Both parents have to be carriers of a HEXA mutation to be at risk of having a child with Tay-Sachs disease. If both parents are carriers, their children will have a 25% chance of developing the condition.

Read more about the causes of Tay-Sachs disease.

Testing for Tay-Sachs disease

Screening for Tay-Sachs disease is recommended for people in high-risk groups before planning a family. In the UK, this includes people of Ashkenazi Jewish descent and anyone with a history of the condition in their family.

Screening can take place at two points, either before or after a baby is conceived. If the condition is diagnosed in an unborn baby, the parents can decide whether or not to continue with the pregnancy.

Read more about testing for Tay-Sachs disease.

How is Tay-Sachs disease treated?

There’s currently no cure for Tay-Sachs disease, so treatment involves making the child feel as comfortable as possible by treating the associated symptoms.

Research is being carried out into possible cures for Tay-Sachs disease, but this is still at an early stage.

Read more about treating Tay-Sachs disease.

Who is affected?

Tay-Sachs disease used to be most common in people of Ashkenazi Jewish descent. Most Jewish people in the UK are Ashkenazi Jews.

It’s thought that around 1 in 25 Ashkenazi Jewish people are carriers of the mutated gene that causes Tay-Sachs disease.

However, with screening, the condition is now rare and most cases now occur in people who aren’t of Ashkenazi Jewish descent. It’s estimated that only about 1 in every 360,000 children born worldwide has Tay-Sachs disease.

Information about your child

If your child has Tay-Sachs disease, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.