Klinefelter’s Syndrome (KS)

Orchidometers (3)

In the modern world where ‘size matters’, men with small testes are understandably unwilling to discuss this with friends, partners and even their doctor. However there may be a reason why – Klinefelter’s syndrome (KS).

Klinefelter’s Syndrome (also known as 47, XXY or XXY) is a genetic condition affecting 1 in every 500 to 650 males. It is largely undiagnosed with only one in four men knowing they have the syndrome, usually finding out after seeking help for fertility issues. Such a late in life diagnosis often results in affected men feeling cheated, resentful, short-changed, cynical, embittered and angry because their childhood and adolescent years have generally been a struggle both academically, physically and emotionally. Their feelings of being hard done-by are often enhanced when the treatment, the bio-identical hormone testosterone, is so simple and readily available. A holistic approach is also required which can include genetic counselling.

With such a large number of men unaware they have KS, this blog hopes to raise awareness and reduce stigma. If you or someone you know displays the signs and symptoms below please see your physician as early detection is beneficial.

What Causes KS?

Klinefelter’s syndrome occurs at a chromosomal level when the fertilized egg splits to two cells. Normally males have just one X chromosome to give the genetic makeup XY but those affected by Klinefelter syndrome have at least one extra X chromosome. This is why KS is sometimes called XXY syndrome.

80-90% of affected males have 47,XXY and most will have normal intellectual development.

10% have mosaicism (46XY,47XXY). Men with Klinefelter’s mosaicism are often fertile and can father a child through modern technology.

Very rare and more serious variants are 48, XXYY; 48,XXXY; 49,XXXYY; 49,XXXXY. Boys with these rare variants will have significant developmental delay of which the severity increases with each additional X chromosome.

KS Symptoms

There is a wide variation in the symptoms displayed and often it’s not until fertility issues arise that some men find out they have KS. Diagnosis can not be made on symptoms alone, genetic screening may be conducted to confirm Klinefelter’s syndrome however there may be some tell tale signs that can lead to early detection.

Babies and Toddlers

Developmental delay

Undescended testicles

Pea-sized testicles

School-aged Boys

Tall stature, knocked knees, high arches

Protruding lips and projecting jaw

Very widely-spaced eyes

Poor coordination, lack of sporting ability

A quite personality with occasional burst of aggression

Learning disabilities such as dyslexia, poor receptive  and expressive language skills

Osteoporosis – ‘weak’ bones

During Puberty and Leading into Adulthood

Small testicles

High-pitched voice

Sparse beard and body hair

Enlarged breasts and feminine body shape

Enlarged molar teeth

Lack of libido, sexual dysfunction

Infertility – not all KS males are infertile

Thrombosis and mitral valve prolapse

Poor-self esteem and psychological distress

KS Treatment

Testosterone replacement therapy plays an important role in the multidisciplinary approach to treating Klinefelter’s syndrome. Boys aged between 11 to 12 years old can commence testosterone supplementation, this will help virilize them to give secondary sex characteristics like a beard, body hair and a male-patterned fat distribution. No special diets are required, hospital care is not required and treatment is on an out-patient basis.

Currently there are many methods to replace testosterone including injections, patches, creams, gels, solutions, and oral capsules. Each has their advantages and disadvantages however topical preparations (testosterone cream, gels and solutions) do offer flexibility in dosing and consistent blood levels. Consideration must also be given to the psychological health of the KS male and the parents of young boys diagnosed. Whilst most KS males live a fulfilled life the implications are variable and issues such as infertility and body image can be daunting. It is encouraging to know that modern IVF treatments are helping many KS men become fathers and testosterone replacement can promote male-like characteristics. We are aiming to raise awareness of Klinefelter’s Syndrome so importantly those males affected can commence treatment as soon as possible.

More information about Klinefelter’s Syndrome can be found at www.andrologyaustralia.org  or click on the booklet below;

Understanding Klinefelter Syndrome

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