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The importance of early diagnosis

For the few who are eventually diagnosed with KS/XXY, it is often too late for them  to access fertility treatment, but that’s not all…….

Most KS/XXY adults are never diagnosed or are diagnosed late in life.

Unfortunately KS/XXY is often diagnosed late in life (at over 35 years of age) when much of the damage in terms of physical, mental and social health has been done.

As a result, many may have had little support or understanding and may suffer from:

  • osteoporosis
  • obesity
  • diabetes
  • extreme tiredness or lethargy
  • depression
  • gynaecomastia (breast development)
  • mood swings and mental health issues
  • social anxiety

However, not ALL  suffer from ALL these symptoms.

Nor do ALL suffer extremes.

Symptoms occur often … but not always.

Question mark on chest of man

Many adults who were diagnosed later in life said that KS/XXY had little effect on them – other than infertility.

Others have failed at school and in the work place because their difficulties were never recognised.

Each case of KS/XXY needs to be individually assessed.

Some of our members are affected by osteoporosis in their thirties while others are active sportsmen.

Some have diabetes, while others do not.

Early diagnosis, a healthy lifestyle and appropriate treatment and support can make a huge difference!

Currently about 75% are never diagnosed and many are diagnosed later in life.

The poem below was written by one of our members who was diagnosed at the age of 70. The diagnosis explained so much about his life. 

He speaks for so many of those diagnosed late in life.

The Syndrome by Nick

Why are diagnostic rates so poor?

KS/XXY affects around 1 in 600 males.

Some healthcare professionals suggest that diagnostic rates are poor because symptoms vary so much, making KS/XXY difficult to identify. Others suggest that the majority of people with KS/XXY do not suffer from problems of sufficient severity to warrant seeking help or advice.

The KSA suggests that a major factor is that many medical professions are unaware that KS/XXY affects 1 in 600 males and that they almost certainly will have unrecognised patients with the condition.

Variability of symptoms

Certainly the symptoms displayed do vary from person to person but the KSA, from years of experience of dealing with the ‘victims’ of late diagnosis, urges GPs to be more aware of the relatively high incidence of KS and the importance of an early diagnosis.

Intimate nature of symptoms

The intimate nature of some symptoms – small testes in particular – can make discussion with others, even doctors, extremely daunting as well as causing possible psychological trauma and withdrawal from society.

Lack of awareness

KS/XXY isn’t rare… but it is rarely diagnosed. It can have considerable implications for some of those affected. The KSA are committed to improving the rate and the age of diagnosis by raising awareness of the condition, its symptom and effects.

KS/XXY is not simply infertility and a lack of testosterone. It can have much wider effects for many of those who have the condition. Early diagnosis can make a huge difference.

A KSA comissioned report highlighted the problem of late diagnosis

16% were diagnosed when they were under 10 years old 11% between the ages of 11 and 17 years of age 29% when they were a young adult between the ages of 18 – 28 years 39% when they were between 29 and 55 years of age

Around 75% are never diagnosed.