Diagnosis in Adults with XXY

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Many individuals will go through life not knowing they have Klinefelter Syndrome/XXY syndrome, in fact it is believed 75% are not diagnosed.

The majority of individuals that are in fact diagnosed with Klinefelter Syndrome/XXY (KS/XXY) are often diagnosed at the age of puberty or in adulthood when they are embarking on a journey to have a family

The time of receiving a diagnoses as an adult can be a completely overwhelming and confronting time with an array of emotions being experienced. For many adults the initial diagnoses are very impactful, and life changing and often involves others especially when the diagnoses comes about due to fertility challenges

Being diagnosed with KS/XXY can come as an enormous shock. It’s normal for individuals to experience a large range of emotions in the wake of such a diagnosis. Distress, devastation, fear and despair are extremely common following such a diagnosis. Research indicates that people who are experiencing several stressful life events before a diagnosis, and those with a history of depression, may be at particular risk of psychological distress when they learn they have a long-term condition. However, even people with relatively few stresses in life can be completely shaken by a new diagnosis and find it difficult to cope.

Grief is another common reaction to receiving a diagnosis. The individual may experience various stages of grief including denial, bargaining, anger and sadness. They may feel they’re on a roller coaster of emotion — accepting one day, and angry the next. It may be helpful for individuals to know that these feelings are normal, and will likely ease with time, support and more information. Many individuals with the right support can learn to manage these feelings and to live a fulfilling life.

For some individuals receiving a diagnosis of Klinefelter syndrome/XXY syndrome as an adult can also be a time of relief with some individuals describing it as a ‘lightbulb moment’ where they finally understand why they feel the way they do. It may also help explain certain challenges they have had throughout life and why they may have struggled through school, find social situations at times challenging, have certain health issues and many other things. Many individuals are often misdiagnosed with autism or learning challenges prior to getting a KS/XXY diagnoses, for some this has been an ongoing battle to receive the correct diagnosis. Once the correct diagnoses are made it often allows for targeted and individualised treatment options to be discussed and implemented.

An official diagnosis of KS/XXY can help individuals answer a lot of questions they might have about themselves. It can also help (if they wish to disclose their diagnoses), those around them such as family, friends or employers, to understand the difficulties they may be experiencing and how they can make things a little easier. Many workplaces can modify or set up tools to help individuals in the workplace to become more productive and satisfied in their chosen careers.

Potential signs and symptoms and health risks that may be experienced

It is important for adults to know that KS/XXY is a spectrum and therefore everyone is affected in different ways and to varying degrees. The list of signs and symptoms for KS/XXY is long and can overwhelm people but individuals will certainly not experience all the signs and symptoms, but MAY have some of the following signs and symptoms

• Small testicles (hypogonadism) – males with Klinefelter syndrome always have small testicles from puberty
• Lack of facial, pubic and underarm hair
• Poor muscle development
• Gynaecomastia: Breast tissue development
• Unexplained weight gain, especially on the stomach or trunk
• Tiredness and fatigue
• Micro phallus (small penis)
• Undescended testes
• Disproportionately long arms and legs compared to the length of the body
• Taller than average height
• Poor short-term memory
• Poor concentration, ADHD is very common
• Clinodactyly: Curved pinky finger
• Speech and learning difficulties, most commonly verbal dyspraxia – in some cases this can lead to behavioural problems
• Learning difficulties usually associated with spelling, reading and writing
• Lack of co-ordination (dyspraxia)
• Difficulty expressing themselves
• Difficulties processing information – especially verbal
• Poor social development
• Autistic tendencies
• Display challenging behaviours
• Sadness, lowered mood or depression and anxiety
• Dislikes sports, particularly team sports
• Poor communication and social skills
• Taurodontism: Tooth decay and teeth issues

Who should be involved in the care of an adult with Klinefelter syndrome/XXY?

Knowing, even with a diagnosis as an adult, opens the door to appropriate treatment, services and supports available, some of which the individual may not even know about. Some health professionals that are vital to add to an individual’s health care team and support network are; a good GP and Endocrinologist. It is ideal that the GP knows about the other potential health implications that can be associated with KS/XXY as they will need to do or order the appropriate health checks. If the GP doesn’t have a broad knowledge base on KS/XXY and the associated co-morbidities, they should be referred to our website and look under the health professionals tab to gain further information, this will allow them to carry out and order the right health checks and tests. The Endocrinologists needs to have knowledge on KS/XXY to ensure an individualised treatment plan is discussed and decided upon in a collaborative approach with the individual and if the individual decides to go on testosterone the right dose and type of testosterone is administered according to the individuals needs and circumstances.

Anyone with KS/XXY must have regular dental check ups due to taurodontism that decreases the teeth enamel and increased the pulp within the teeth leading to very high risks of tooth decay or other tooth issues. Dental check ups are recommended very 6 to 12 months.

Other health professionals that may need to be involved in the health care team of KS/XXY individuals are:

• Psychologist
• Speech pathologist
• Occupational therapist
• Plastic surgeon

Treatment options available in adults with KS/XXY

Some days individuals may be tempted to pretend they never received a diagnosis. However, facing their diagnosis head on is the best way to cope according to some research around adults receiving a diagnosis of a life-long disorder/syndrome/condition. Mental health and wellbeing are the number one priority post diagnosis and strategies should be implemented to help decrease any mental health impacts. Genetic counsellors, counsellors or psychologists can be fantastic and much needed support that can help an individual implement the right tools to deal with and cope, although they must be the right fit for the person. Utilising a mental health plan through a GP helps to greatly minimise the costs associated with this.

An individual newly diagnosed adult with KS/XXY should have a thorough health check-up including physical examination, blood tests and potentially bone scans.

Many individuals find testosterone beneficial to their health and mental wellbeing, others chose not to embark on this treatment option. Testosterone research and studies indicate there are big health benefits to individuals if they are on long-term testosterone. The GP and Endocrinologist will be able to discuss all treatment options that are available. Treatment should be a holistic approach encompassing physical and mental health and well-being. With ongoing support from health professionals and the best individualised treatment regime, this will all help make the day-to-day that bit easier and help minimise any associated medical conditions and ensure that individuals with a new diagnosis of KS/XXY feel well supported.

Some individuals may have experienced lifelong challenges of speech and language delays or fine motor challenges, it is never too late to engage with a speech therapist or occupational therapist.

For those experiencing breast tissue development, the option of plastic surgery is available.

How can an individual’s actively face their new diagnoses?

A good place to start is by an individual writing down all their questions and taking them to a Genetics Counsellor or Endocrinologist knowledgeable on KS/XXY to discuss. Asking support groups important questions to ask is also helpful. Asking their doctor what specific steps they can take to optimise their health and mental wellbeing is very important. Accurate knowledge can help an individual feel empowered and ensure any potential health risks are detected, treated and minimised.

If low fertility or infertility are the reasons behind a KS/XXY diagnoses it is very important for a couple to try and cope and deal with it together. With support they should help each other through this time (and don’t blame each other for your difficulty getting pregnant).

This doesn’t mean they need to feel the same thing at the same time – expecting to have the same emotional experience or ways of coping is one of the most common pitfalls for couples facing fertility problems. It does mean paying attention to what each partner is going through.

Working together to find practical ways to share each other’s burdens can often be a helpful process. Unfortunately, society often fails to recognise the grief caused by infertility, and particularly the devastation caused by it being associated with a new diagnosis, so people struggling to conceive tend to hide their sorrow, which only increases feelings of shame and isolation.

Finding other people who are going through the same thing can help individuals and couples see that fertility problems are widespread and that the way they are feeling and coping with it all is very normal. Several in the AXYS community have been through this journey and can share their experiences. Working together through this time of grief often helps individuals with a new diagnosis of KS/XXY move forward in a more positive light.

Adults with KS/XXY can also look at trying to manage the elements in their life that are within their control. They may not be able to control certain aspects of their newly found extra X, but they can choose to eat healthy meals, investigate strategies to help with mental health, take medications as prescribed (if needed) and spend less time with people who aren’t supportive.

AXYS are here to provide support, guidance, information and are here to help individuals link into the right health professionals.

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