Klinefelter syndromeWe’re on a new mission – to get men testing for Klinefelter Syndrome.

1 in 500-650 men are born with Klinefelter’s and most don’t know it.

So many men are wandering around out there with underdeveloped gonads and infertility issues without knowing the reason why. It’s time that changed. It’s also time that we destroyed the stigma attached to diagnosis and treatment. Only a small percentage of men who have Klinefelter Syndrome actually seek treatment.

Why is it so important for children and men to test for and treat Klinefelter’s? It’s the number 1 cause of male infertility and the reason why many teenagers don’t develop properly during puberty. It can affect everything from having underdeveloped genitals in adulthood and overdeveloped breasts to learning difficulties and physiological issues.


How does Klinefelter’s develop? Can you avoid it?

In short, Klinefelter’s is a genetic condition. It’s not curable, but it is manageable.

Klinefelters develops during conception when chromosome distribution takes place. Cells in healthy males should have only 1 X chromosome but Klinefelter sufferers have 2 or more. For this reason the Syndrome is also referred to as XXY syndrome.  Pairs of chromosomes are meant to separate and join separately with daughter cells so each cell has one of each. With Kinefelters they don’t separate and instead both join to 1 daughter cell, leaving the other one on its own. Like other chromosomal diseases, Klinefelter Syndrome is more prevalent in children of older mothers. There are also some variations to the disease. Not all males are affected by it the same way.

80-90% of males with Klinefelters have 47,XXY chromosomes – it means they have 1 extra chromosome and are likely to have normal intelligence levels

10% of males with Klinefelter’s have 46,XY chromosomes – known as mosaicism and can normally have children of their own, especially considering modern advancements in infertility treatments.

Rare cases of Klinefelter’s include these chromosome variants – 48,XXYY; 48,XXXY; 49,XXXYY;49,XXXXY; 47,X,i(Xq)Y and 47,X,del(X)Y) – Males with these variations tend to have mental retardaitions


Klinefelter’s symptoms

These are all symptoms of Klinefelter Syndrome and they often go undetected until it’s too late.


Main Symptoms of Kinfelters in babies/toddlers

Delay in development and social development

Small or undescended testicles

Hypospadias – when urine leaks from te underside of an opening in the penis


Main Symptoms of Kinfelters in young boys

Poor coordination

Quiet personality with outbursts of aggression

Stature – tall, with high arched feet, knock knees and/or radioulnar synostosis.

Eyes – if they are spaced widely apart or have skin folds on the upper side of the eyelids

Facial features – protruding lips and jaw

Other symptoms are linked to ADD, learning disabilities, language skills, retardation, short term memory loss, lack of sporting ability and thin bones (Osteopoosis)


Main Symptoms of Kinfelters in pubescent boys

Low amounts of body hair sparsely distributed

Enlarged breasts and feminine distribution of fat

Large molar teeth (Taurodontism)

Physiological problems like inability to deal rationally with stress, anxiety and depression


Main Symptoms of Kinfelters in men

Low libido and sexual dysfunction


Physiological problems, low self-esteem and anxiety

Thrombosis and varicose veins

Mitral valve prolapse


Klinefelter’s treatments

Treating and managing Klinefelter’s is relatively simple. You don’t need long hospital stays or special diets. Using long term testosterone therapy is the best form of medication.

Using testosterone therapy to up testosterone levels gives males more man-like characteristics. Its helps improve everything from developing muscle mass to increasing facial and body hair and helping the development of male sexual characteristics.  It doesn’t take away the syndrome but developing male characteristics goes a long way to help self-esteem and physiological issues relating to the symptoms of Klinefelters. It also helps them lead a normal sex-life.


If you are an adult you can start using testosterone therapy like AndroForte bioidentical testosterone cream immediately. Boys can start using testosterone therapy as soon as they reach 11 years. This is before boys tend to start going through puberty. Higher testosterone levels will aid the development of their male sex characteristics. Testosterone cream is applied at the advised dosage/strength every morning to the scrotal area. It’s easy to apply and absorbs easily. There are other kinds of testosterone treatments out there as well – you need to choose what is right for you or your child.

For more information on Klinefelter’s, take a look at the articles on our Research & Science tab. What is Klinefelter syndrome, Diagnosing Klinefelters, Treating Klinefelters.