A to Z of Medical Conditions

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Klinefelter syndrome – What are the signs and the symptoms of the Klinefelter syndrome?

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

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Bell’s palsy – what are the signs and symptoms of Bell’s palsy?

Bell's palsy

Bell’s palsy

Introduction

Bell’s palsy is a condition that causes temporary weakness or paralysis of the muscles in one side of the face. It is the most common cause of facial paralysis.

Other causes of facial paralysis include:

congenital facial palsy – children born with facial weakness

injury to the facial nerve in an accident – such as a cut to the cheek or skull base fracture

injury from surgery – which is most common during surgery of the parotid gland and neck

What are the symptoms?

The symptoms of Bell’s palsy vary from person to person. The weakness on one side of the face can be described as either:

partial palsy, which is mild muscle weakness

complete palsy, which is no movement at all (paralysis) – although this is very rare

Bell’s palsy can also affect the eyelid and mouth, making it difficult to close and open them. In rare cases, it can affect both sides of a person’s face.

Read more about the symptoms of Bell’s palsy

When to seek medical advice

As well as being a symptom of Bell’s palsy, facial weakness or paralysis can also be a sign of a more serious condition – such as a stroke.

Visit your nearest A&E department immediately or call 999 for an ambulance if you or someone you are with develops sudden facial paralysis, so a doctor can determine the cause.

 

Bell’s palsy is only diagnosed if other possible causes of your symptoms are ruled out.

Read more about diagnosing Bell’s palsy.

Why does it happen?

Bell’s palsy is believed to occur when the nerve that controls the muscles in your face becomes compressed.

The exact cause is unknown, although it’s thought to be because the facial nerve becomes inflamed, possibly due to a viral infection.

The herpes virus is thought to be the most common cause but other viruses may also be responsible.

Read more about the causes of Bell’s palsy

Who is affected?

Bell’s palsy is a rare condition that affects about one in 5,000 people a year. It’s most common in people aged 15-60, but people outside this age group can also suffer from the condition. Both men and women are affected equally.

Bell’s palsy is more common in pregnant women and those with diabetes and HIV, for reasons that are not yet fully understood.

Treating Bell’s palsy

Around seven out of 10 people with Bell’s palsy make a complete recovery, with or without treatment.

Most people notice an improvement in their symptoms after about two to three weeks but a complete recovery can take up to nine months. The recovery time varies from person to person and will depend on the amount of nerve damage.

Prednisolone, a type of corticosteroid, is used to reduce the swelling of the facial nerve.

Eye drops may be required to prevent problems if you are unable to close your eye. Tape may also be used to close the eye while sleeping.

Read more about treatments for Bell’s palsy.

Complications

Around three in 10 people with Bell’s palsy will continue to experience weakness in their facial muscles, and two in 10 will be left with a more serious long-term problem.

Complications include:

persistent facial weakness

eye problems

difficulty with speech, eating and drinking

reduced sense of taste

facial muscle twitching

Bell’s palsy may reoccur in up to 14% of people, especially if there is a family history of the condition.

Read more about the complications of Bell’s palsy.

Posted on A to Z of Medical Conditions

Hypermobility syndrome – what are the signs and symptoms?

Hypermobility means your joints are more flexible than other people’s (you may think of yourself as being double jointed). When this causes pain, it might be joint hypermobility syndrome.

See a GP if you:

often get pain or stiffness in your joints or muscles

keep getting sprains and strains

keep dislocating your joints (joints “pop out”)

have poor balance or co-ordination

have thin, stretchy skin

have digestive problems like diarrhoea or constipation

These can be symptoms of joint hypermobility syndrome.

What happens at your GP appointment

Your GP will usually test the flexibility of your joints using the Beighton score.

They may also refer you for a blood test or X-ray to help rule out any other conditions like arthritis.

Testing hypermobility – Beighton score

Treating joint hypermobility syndrome

There’s no cure for joint hypermobility syndrome.

The main treatment is improving muscle strength and fitness so your joints are protected.

Ask your GP to refer you to a physiotherapist or occupational therapist for specialist advice. You can also book them privately.

They can help you:

reduce pain and risk of dislocations

improve muscle strength and fitness

improve posture and balance

It may help to meet other people with joint hypermobility syndrome, or join a support group like the Hypermobility Syndromes Associationor Ehlers-Danlos Support UK.

Treating joint pain

Paracetamol and anti-inflammatory painkillers (like ibuprofen, which can come in tablets, gels and sprays) may help ease any pain. Speak to a pharmacist about the best treatment for you.

Your GP may be able to prescribe stronger painkillers.

If you’re in severe pain, ask your GP to refer you to a pain clinic to help you learn how to cope better with pain.

To help ease joint pain and stiffness, you can:

have warm baths

use hot water bottles

use heat-rub cream

Joint care you can do yourself

To improve joint and muscle strength, and reduce strain:

Do

gentle low-impact exercise like swimming or cycling – not doing any exercise can make your symptoms worse

maintain a healthy weight

buy good, firm shoes

if you have flat feet, use special insoles (support arches) in shoes

Don’t

do not do high-impact exercise

do not overexercise

do not grip things too tightly

do not overextend your joints just because you can

Children’s joint care

Download joint care techniques for children (PDF, 332kb)

What causes joint hypermobility syndrome

Joint hypermobility syndrome usually runs in families and can’t be prevented.

Usually, the joints are loose and stretchy because the tissues that should make them stronger and support them are weak.

The weakness is because the collagen that strengthens the tissues is different from other people’s.

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Ten of the best foods to fight your arthritis

Living with the swelling and stiffness of rheumatoid arthritis is a very difficult and painful thing to deal with on a day to day basis. This pain is caused by the inflammation of the joints which can occur throughout the body. Foods such as red meat, fried food and alcohol have been linked to increasing inflammation in the body and are not recommended to people who have arthritis. Being careful about what you eat is never easy but the good news is that there are certain types of food that can actually help with arthritis.

Below is an infographic provided by www.homeremediesforlife.com that shows foods that are not only good for you but could help to breakdown inflammatory problems associated with rheumatoid arthritis.

10-best-foods-fight-arthritis

 

Posted on A to Z of Medical Conditions

Is surgery really necessary in the treatment of sciatica?

By Dan Plev, Consultant Spinal Neurosurgeon, The London Clinic

Sciatica is a term used to describe a pain experienced in the nerves which leaves the lower back and passes through the buttocks and/or legs.  It can be felt as a dull ache, shooting pain or numbness and can occasionally cause weakness in the legs. 

Sciatica is often constant, unlike some pain which comes and goes. There’s no escape from it and this is why it causes misery.

In most cases the pain will subside with a bit of time because our body is able to heal itself.  However, when the pain doesn’t pass, there are a variety of treatment options. 

Treatments range from medication, manual therapy and exercise, to non-invasive IDD Therapy disc treatment.  When non-invasive treatment is not working, we may consider injections and in some cases surgery is the appropriate treatment route.

Causes of sciatica

There are a variety of causes of sciatica but usually the origin is the lower back.  Our spine is made of a stack of bones like cotton reels (vertebrae).  Between the vertebrae we have cushion-like discs or intervertebral discs which act as spongy shock absorbers as we move. 

The discs are also important because they create a gap between the solid vertebrae.  The gaps create space for the nerves to pass as they branch off from the spinal cord. 

There are two main issues which can affect the nerves:

  1. Disc problems:  The discs have a strong outer wall made of tough fibrous collagen (annulus fibrosus).  Inside the disc is a gel-like substance (nucleus pulposus) which has a high water content and provides shock absorbing properties. 

If the centre of the disc pushes out against, or even through, the disc wall it can touch or put pressure on the nerve.  This “bulging” or “herniated” disc can press on the nerve and or cause chemical irritation to the nerve leading to pain.

  • Narrowing between the vertebrae:  If the gap between the vertebrae in the lower back narrows, this can reduce the space for the nerve. When there is pressure on the nerve, this can result in sciatic pain. 

The reduction in the space between the vertebrae can be caused by a loss of disc height.            Over time our discs lose water.  Rather like a deflated bicycle tyre, if the disc loses water it can also lose height, thus narrowing the gap between the vertebrae.  This can pinch a nerve.

Alternatively, or as a result of the loss of disc height, the body can add more bone to a vertebra to strengthen it.  The disc carries a certain proportion of our bodily load.  If there is an issue with the disc and it takes less of the weight, then more load is placed on to our bones. 

In order to support the additional load, the body reinforces the vertebra by adding more bone.  That additional bone can lead to a loss of space for the nerves.  This additional bone is described as spinal stenosis.  With less space for the nerve they can again become “pinched” and the nerve pressure causes pain.

Treatment Options

A sudden onset on sciatica can be caused by a small disc bulge pressing on to a nerve.  In this circumstance, as the body moves, pressure changes may help to retract the bulge and thus relieve the pain.

Our discs are designed to support our weight and allow us to move freely.  They rely on movement to stay healthy and function as a unit with the muscles and ligaments. 

Weakness and stiffness in the soft tissues can mean that the disc and vertebrae are placed under increased load.  When that is combined with exposure to load for long periods, most commonly from poor posture and lengthy periods of sitting, it can put more strain the discs. 

Unfortunately, long periods of sitting usually go hand in hand with lower activity levels.  This is a cause of the weakness in the muscles and leaves them less able to take their share of the support.

Manual Therapy and Exercise

Manual therapists will use a range of stretching and mobilisation techniques to increase the flexibility of the soft tissues and alleviate the stiffness in the joint. Pain creates a vicious cycle where we can’t move but it is the movement which is so important for the cure!

The goal is to create some movement in the spine and to unload the disc and the joints.  Sometimes the soft tissues even become stuck together (adhesions) which prevents movement.  Part of the manual therapy and stretching will aim to address that.

For many, the word exercise conjures up memories of PE lessons and cross country running.  But as movement is restored and pain subsides, certain exercises, which anyone can do at home, are important.  These are designed to help to move the joints of the spine and hips, in particular.  Exercise keeps them active, strong and engaged so that they can support their share of load as we move. 

Combined with gentle walking these simple exercises help to keep our spines healthy and prevent further episodes of pain.

IDD Therapy Disc Treatment

IDD Therapy (Intervertebral Disc Decompression) is a non-surgical spinal decompression treatment.  When pain from a bulging or herniated disc persists and has not responded to manual therapy, therapists use IDD Therapy as a tool to help take pressure off targeted discs and to gently mobilise the spine. 

IDD Therapy is a mechanical tool which replaced old-style traction.  It uses computer-controlled pulling forces to open the space between the vertebrae to decompress the disc and gently mobilise the soft tissues and joints with some soft oscillation.  The goal is to relieve pain and help restore movement.

Patients lie on the Accu SPINA machine which delivers IDD Therapy.  They are connected to the machine using ergonomic harnesses and pulling forces are applied at specific angles to treat the affected spinal level. 

The IDD Therapy lasts for 25 minutes and patients remain completely relaxed throughout.  A series of treatments are given and the forces used are gradually built up as the body adapts to the changes. 

IDD Therapy is combined with some other modalities, such as heat, and is provided in combination with manual therapy and strengthening exercises as part of a programme of care.

Injections

There are different types of injection.  The most common injection given by doctors for sciatica is aimed at reducing inflammation. Inflammation is a natural process of healing.  However, after prolonged periods, the inflammation itself can become a problem and excessively irritate the nerves, thus causing pain. 

A steroid injection can be given which helps to neutralise the inflammation and relieve pain.  It is important to make the distinction – corticosteroids for pain relief in medicine are different from anabolic steroids which are performance-enhancing drugs.

Injections are usually given to create a pain-free window, whereas the other treatments described here address the causes of the problem.

Surgery for sciatica

Surgery is the preferred treatment for sciatica when either the pain is intolerable and has not responded to other non-invasive treatments or the pressure on the nerve is such that it is causing weakness, usually in the legs or in very extreme cases, a loss of bladder or bowel control (cauda equina).

If a disc in the spine has herniated, this is where the centre or nucleus of the disc has pushed out through the walls of the disc. 

Sometimes only a small amount of the nucleus has pressed through the wall, or it can be substantial.  Usually the body can reabsorb this disc material, however if it remains, it can become hard and leave patients in constant pain.

The most common surgery given is called a microdiscectomy.  This is where a small incision is made in the lower back and using surgical instruments, the piece of disc material is removed.  This surgery can be very effective in relieving leg pain.

If the space where the nerve lies is narrowed, other forms of “decompression” surgery can be used where small pieces of bone are removed to create space for the nerve or to remove bone which is pressing on it.

It is important to stress that long term pain relief is best achieved if the causes of the weakness are addressed.

Urgent surgery:  Where a patient is experiencing weakness in their legs this is a more serious proposition and usually surgery will be considered early.  Weakness or a loss of leg power can mean that the nerve is at risk of damage and thus relieving the pressure quickly is very important. Surgery is also usually given as a priority if there is a loss of bowel or bladder function.

Whilst surgeons and therapists see a lot of patients with back pain, in some ways sciatica is the condition which causes the most stress and anxiety. 

Surgery and invasive treatments are only necessary in a small percentage of cases.  The advances in conservative (non-invasive) care mean that most sciatica can be addressed without the need for surgery.  Clinicians work together to match the right option for the right condition. 

The final word on sciatica is that prevention is always better than cure.  Staying mobile, keeping active and avoiding prolonged sitting are key to looking after your back and keeping sciatica at bay.

ABOUT THE AUTHOR

Dan Plev is a Consultant Spinal Neurosurgeon and IDD Therapy provider at The London Clinic in Harley Street, London.

‘Intervertebral Differential Dynamics” orIDD Therapy is the fastest growing non-surgical spinal treatment for intervertebral discs with over 1,000 clinics worldwide and 34 clinics across the UK. Safe, gentle and non-invasive, IDD Therapy helps patients who need something more for their pain when manual therapy alone is insufficient to achieve lasting pain relief. http://iddtherapy.co.uk/

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