Health Professionals for XXY

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Klinefelter’s Syndrome/XXY isn’t rare – but it is rarely diagnosed

It is therefore no surprise, given the vast range of serious medical conditions affecting human beings, that many medical professionals are perhaps only vaguely familiar with X and Y chromosome variations. A health professional and health care provider’s learning are never done.

Klinefelter syndrome affects as many as 1:450 males but unfortunately it is believed that 75% of individuals with KS are never diagnosed or a large percentage that are diagnosed have a late diagnosis. Unfortunately, KS 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, gynecomastia (breast development), learning difficulties, mood swings and mental health conditions that lead to social isolation and difficulties in the workplace and in their community.

Health care providers play an integral role in a child and individuals’ life who has Klinefelter syndrome, they are vital to ensure that rates of early diagnoses significantly increase and are also key to ensure that the health risks are minimised and managed.

It is important to remember that Klinefelter syndrome is a spectrum so not all suffer from these signs and symptoms and some may be affected mildly while others quite significantly.

Prenatal Diagnoses

What health care professionals should be involved in a prenatal diagnosis of Klinefelter syndrome/XXY? Health professionals that should be involved are:

• Obstetrician
• GP
• Midwife (depending on the model of care expectant parents choose)
• Maternity hospital
• What are common signs and symptoms and health implications for a prenatal diagnosis of Klinefelter syndrome/XXY?

A pregnancy with an unborn child with a KS/XXY diagnoses is not unlike any other pregnancy, there is no need for additional support or intervention due to this prenatal diagnosis. The condition is rarely diagnosed after birth, because the baby looks healthy and unaffected.

However, certain physical characteristics sometimes associated with Klinefelter syndrome/XXY may be apparent in babies, including:

• Low muscle tone (hypotonia)
• Slow motor development — taking longer than average to sit up, crawl and walk
• Delay in babbling
• Quiet, placid personality
• Small penis or undescended testicles
• Hypospadias
  

Children

What health care professionals should be involved in a child life who has Klinefelter syndrome? Essential health care provider team:

GP: For regular check-ups, health checks, referrals to appropriate specialists and services and for the development of chronic disease management plans and mental health care plans if required.

• Paediatrician
• Paediatric Endocrinologist
• Maternal and child health Nurse
• Dentist

Potential health care provider and early intervention services team:

• Speech therapist
• Occupation therapist
• Physiotherapist
• Psychologist or Psychiatrist
• Podiatrist
• Early educator support

What are common signs and symptoms for a child with a diagnosis of Klinefelter syndrome/XXY?

The appearance of signs and symptoms of Klinefelter syndrome in childhood can vary greatly and range from mild to those that are more obvious. It is important for health care providers to remember that Klinefelter’s syndrome is a spectrum condition – its effects vary enormously in both incidence and severity. Many of the signs and symptoms of Klinefelter syndrome also occur in children with other conditions, or children who do not have an underlying diagnosis, which makes detecting Klinefelter syndrome in childhood difficult. Some of the common and potential signs and symptoms in a child with Klinefelter syndrome are:

• Low muscle tone: 68% will have hypotonia
• Reduced muscle strength or tone can sometimes lead to other complications such as sleep apnoea or chronic constipation
• Speech delay/expressive language disorder: 70%-80% will have language difficulties, most commonly verbal dyspraxia.
• Mild autism: 11-27% of children and adolescents are diagnosed with autism
• Subtle developmental delays e.g. Grabbing objects, crawling, walking, talking etc.
• Learning difficulties: It is believed that 50% – 75% throughout childhood will be diagnosed with a reading disorder
• Attention deficits: This is very common with 63% of children diagnosed with ADHD
• Depression/anxiety: Research suggests affects up to 70% of children and adolescents
• Sensory processing challenges: Are very common and may include aversion to loud noises or over stimuli in busy environments
• Micro phallus
• Undescended testes
• Hypogonadism (low levels of testosterone)
• Clinodactyly: Curved pinky finger
• Poor motor development or coordination (dyspraxia)
• Tiredness and fatigue
• Difficulties processing information – especially verbal
• Shy and timid nature
• Poor communication and social skills
• Display challenging behaviours

Adolescents and adults

What health care professionals should be involved in an adolescent and adult who has Klinefelter syndrome?

Essential health care provider team:

• GP: For regular check-ups, health checks, referrals to appropriate specialists and services and for the development of chronic disease management plans and mental health care plans if required.
• Paediatrician up until 18 years old
• Paediatric Endocrinologist and then Endocrinologist
• Dentist

Potential health care providers team:

• Speech therapist
• Occupation therapist
• Physiotherapist
• Psychologist or Psychiatrist
• Podiatrist
• Educational support in school and throughout further education
• Individual tutor
• Vocational support

What are common signs and symptoms for an adolescent and adult with a diagnosis of Klinefelter syndrome/XXY?

Klinefelter syndrome is often apparent at puberty, when the expected physical changes don’t occur. Although many are not diagnosed until well into their adult life, often identified when they are planning to start a family and are experiencing infertility. It is important for health professionals to remember that the appearance of signs and symptoms of Klinefelter syndrome in adolescents and adults can vary greatly and range from mild to those that are more significant, its effects vary enormously in both incidence and severity. Individuals are often misdiagnosed with other conditions prior to receiving a diagnosis of Klinefelter Syndrome. Some of the common and potential signs and symptoms in an adolescent and adult with Klinefelter syndrome include:

• Small testicles (hypogonadism) – males with Klinefelter syndrome always have small testicles from puberty
• Lack of facial, pubic and underarm hair
• Poor muscle development
• Breast tissue development (gynaecomastia)
• Unexplained weight gain, especially on the stomach or trunk
• Tiredness and fatigue
• Micro phallus
• 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
• Single crease in the palm (simian crease)
• 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

What are common health implications for a child and individual with a diagnosis of Klinefelter syndrome/XXY?

It is essential that health care providers understand the health implications associated with Klinefelter syndrome and recognise that compared with males in the general population, Klinefelter syndrome is associated with an increased risk of certain diseases and conditions. Appropriate follow up, assessments and tests are required to ensure these health implications are identified and treated early. The following health implications may be evident in a child or individual with Klinefelter syndrome:

• Diabetes type 1 and 2
• Osteoporosis
• Diabetes mellitus
• Lung disease: Chronic bronchitis, asthma
• Breast cancer
• Testicular cancer
• Prostate cancer
• Anaemia
• Infertility
• Mental health concerns: Depression, anxiety or other psychiatric conditions
• Leukaemia
• Non-Hodgkin lymphoma
• Thyroid disease
• Autoimmune diseases: rheumatoid arthritis, psoriasis and inflammatory bowel syndrome (IBS).
• Sleep apnoea
• High cholesterol
• Dental problems: Tooth decay, taurodontism, thin teeth enamel
• Venous conditions: Varicose veins, leg ulcers, deep vein thrombosis (blood clots in veins) and pulmonary embolism (blood clots in the lung)
• Essential tremor and unbalanced gait

Health care providers can have a huge positive impact on a person’s life who has Klinefelter syndrome. An earlier diagnosis provides opportunities for the child and his family to access treatments and interventions that can help overcome any difficulties associated with the condition. A collaborative approach is essential to decrease the stress and burden and health implications for those with Klinefelter syndrome.

Together we can all make an immense positive change to increasing early diagnoses and decreasing the health impacts that Klinefelter syndrome has on a child and individual.

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