XXYY is a rare chromosomal anomaly, believed to affect 1:18 000 males.
Due to lack of information and awareness that surrounds a diagnosis of XXYY this is often overlooked and there is a large delay in a child with XXYY being diagnosed. It is 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.
Given XXYY is a rare chromosomal variant unfortunately for many male individuals they live their lives never knowing they have an extra Y chromosome and therefore don’t engage with and seek appropriate treatment and intervention. Due to evident but the subtle physical changes XXYY is more than often misdiagnosed. Due to misdiagnosis or undiagnosed many adults with XXYY lead their lives with no or very little support and understanding and may suffer from extreme tiredness or lethargy, depression, 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 XXYY, they are vital to ensure that rates of early diagnoses significantly increase and are also key to ensure that the health risk of XXYY are minimised and managed. 96% of children/adults with XXYY will display delays in reaching milestone and learning difficulties, early diagnosis, treatment and support is essential.
Misdiagnoses
For many parents and individuals, they can spend several years trying to get the correct diagnoses when delays and challenges are evident. Unfortunately, due to the uniqueness and rarity of XXYY it is often misdiagnosed as other medical conditions or syndromes before the XXYY diagnosis is made. It is important to note that a child or individual with XXYY may also have additional diagnoses. It is imperative that health professionals look at a holistic view of a child or individual and ensure that they consider that an X & Y chromosome variation may be a potential diagnosis. Many children are initial diagnosed with the following prior to an XXYY diagnoses:
- Asperger Syndrome & Autism
- ADD, ADHD
- Pervasive Developmental Disorder (PDD/NOS)
- Sensory Integration Dysfunction
- Hypotonia
- Developmental Disability & Delay
- Fragile X Syndrome
- Epilepsy
- Prader-Willi Syndrome
- Speech Delays
- Heart Problems
- Hand tremors
- Gynecomastia
How to identify and diagnose XXYY?
Older medical information on XXYY Syndrome is very limited and often out-dated, with incorrect information, this can often impact on a health professionals’ ability to identify if a child/individual has XXYY. With increasing prenatal testing, the rates of a prenatal diagnoses of XXYY will increase significantly in which health professionals will be able to act quickly in implementing the appropriate treatment plan and engaging with the right early intervention team from the start. To obtain a diagnosis in a child; often due to the high percentage of children with XXYY who have language and motor delays a speech therapist or physiotherapist has assessed the child prior to them being referred onto a health professional. To ensure the best outcomes are achieved a collaborative approach is necessary with health professionals and the early intervention team, this can also help with an early and accurate diagnoses.
What are common signs and symptoms for a child or individual with a diagnosis of XXYY?
It is important to remember that XXYY is a spectrum, so not all suffer from these signs and symptoms and some may be affected mildly while others quite significantly.
- Hypotonia (low muscle tone)
- Speech delay/expressive language disorder: are very common
- Mild autism
- Developmental delays e.g. Grabbing objects, crawling, walking, talking etc.
- Learning difficulties usually associated with spelling, reading and writing, often with a diagnosis of dyslexia
- Attention deficits: This is very common with many children diagnosed with ADHD
- Sadness, lowered mood or depression and anxiety: A very common affect seen in children, adolescents and adults
- Sensory processing challenges: Are common and may include aversion to loud noises or over stimuli in busy environments
- Social and interaction difficulties: This is often as a result of the above listed
- Behavior challenges: which can include an explosive temper, hyperactivity, impulsivity, defiant actions, emotional difficulties, or in some cases, antisocial behaviour
- Poor communication and social skills
- Micro phallus
- Undescended testes
- Hypogonadism (low levels of testosterone)
- Infertility or low fertility
- Clinodactyly: Curved pinky finger
- Poor motor development or coordination (dyspraxia)
- Tiredness and fatigue
- Difficulties processing information – especially verbal
- Shy and timid nature
- Hand tremor
- Pes plantus (flat feet)
- Club feet
- Tourette syndrome/tic disorder
- Dental problems: Tooth decay, taurodontism, thin teeth enamel
Prenatal Diagnoses
What health care professionals should be involved in a prenatal diagnosis of XXYY?Health professionals that should be involved are:
- Obstetrician
- GP
- Midwife (depending on the model of care expectant parents choose)
A pregnancy with an unborn child with a XXYY diagnoses is not unlike any other pregnancy, there is no need for additional support or intervention due to this prenatal diagnosis alone.
Children
What health care professionals should be involved in a child’s life who has XXYY?
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
Health professionals that should be involved are:
- Obstetrician
- GP
- Midwife (depending on the model of care expectant parents choose)
A pregnancy with an unborn child with a XXYY diagnoses is not unlike any other pregnancy, there is no need for additional support or intervention due to this prenatal diagnosis alone.
Children
What health care professionals should be involved in a child’s life who has XXYY?
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
Adolescents and adults
What health care professionals should be involved in an adolescent and adult who has XXYY?
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
- 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 health implications for a child and individual with a diagnosis of XXYY?
It is essential that health care providers understand the health implications associated with XXYY and recognise that compared with males in the general population, XXYY 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. At minimum a yearly holistic and thorough check-up is required. Males may display or have the following health co-morbidities but are unlikely to have them all. The following health implications may be evident in a child or individual with XXYY:
- Asthma
- Respiratory infections
- Constipation
- Gastroesophageal reflux
- Cardiac abnormalities: Mitral valve prolapse, pulmonic stenosis, VSD, ASD.
- Radioulnar stenosis/congenital dislocation
- Leg ulcers
- Cleft palate
- Obstructive sleep apnoea
- Recurrent ear infections requiring grommets
- Dental abnormalities: Taurodauntism, missing adult teeth, poor enamel, poor dental hygiene
Mental Health
Mental Health professionals are in a unique position to assist in identifying males with XXYY Syndrome. If councillors, psychologists, psychiatrists or trained occupational therapists see a patient with the following characteristics, coupled with other medical and learning problems or characteristics listed on this site, they need to be referred to their primary care physician (often a GP or Paediatrician) and ask for genetic testing:
- Moodiness
- Bi-Polar disorder
- Frustration
- Outbursts
- Difficulties in social situations
- Extraordinary imagination
- Difficulty telling the truth
Some males with XXYY Syndrome often will require and benefit from additional support of medications but often do have unusual reactions to medications. Parents have found that ADD/ADHD medications used at high doses can positively change behaviour along with helping with attentional problems. Other medications for mood stabilisation, etc., can seem to work for a while but then make matters worse. We encourage parents to keep written logs of changes in behaviour of any kind after beginning medication treatments and to always work in collaboration with their health care team to ensure the treatment regime is individualised and appropriate for that child or individual. Mental health challenges can have an enormous impact on a person’s life with XXYY and if not treated appropriately can have devastating impacts.
Health care providers can have a huge positive impact on a person’s life who has XXYY. An earlier diagnosis provides opportunities for the child and his family to access treatments and interventions that can help overcome many difficulties associated with the condition. A collaborative approach is essential to decrease the stress and burden and health implications for those with XXYY.
Together we can all make an immense positive change to increasing early diagnoses and decreasing the health impacts that XXYY has on a child and individual.
