Due to lack of information and awareness that surrounds a diagnosis of XXXY this is often overlooked and there can be a large delay in a child with XXXY being diagnosed correctly. 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.
Males with XXXY syndrome are diagnosed anywhere from before birth to adulthood as a result of prenatal testing and the range in the severity of symptoms. Prenatal testing is significantly increasing due to its availability and continued advancements. Many expectant parents are completely unaware that these tests can also identify X & Y sex chromosome variations. These tests can be obtained via analysis of the mother’s blood known as the Harmony test or NIPT. A diagnosis of XXXY in children and adults is often made if several of the above signs, symptoms and features are observed. Testing is made based upon a thorough clinical evaluation, a detailed patient history, and specialised blood tests for chromosomal analysis that detect the presence of two extra X chromosome (48,XXXY karyotype). The most common type of testing is a specialised blood test known as karyotyping. Children and adults displaying a combination of speech and language delays, motor delays, difficulty particularly with reading, displaying impulsive and challenging behaviour with attention difficulties and have a tall stature should have a blood karyotyping carried out to confirm or rule out an XXXY diagnoses.
Health care providers play an integral role in a child and individuals’ life who has XXXY, they are vital to ensure that rates of early diagnoses significantly increase and are also key to ensure that the health risks of XXXY are minimised and managed.
It is important to remember that individuals with an XXXY diagnosis will be affected in different ways, some may be affected more mildly while others quite significantly.
What health care professionals should be involved in a prenatal diagnosis of XXXY?
What are common signs and symptoms and health implications for a prenatal diagnosis of XXXY?
Babies with XXXY usually look much like any other baby at birth although some may have slightly unusual facial features, such as skin folds across the inner corners of the eye (epicanthic folds) or wide set eyes (hypertelorism). Some have unusual hand features such as a single palm crease or incurving fifth fingers. In some babies the penis is very small (micro phallus). Babies with XXXY may be smaller than average newborns in height and weight.
What health care professionals should be involved in a child’s life who has XXXY?
Essential health care provider team:
Likely health care provider and early intervention services team:
What are common signs and symptoms for a child with a diagnosis of XXXY?
The appearance of signs and symptoms of XXXY in childhood can vary greatly and range from mild to those that have a significant impact on a child. It is important for health care providers to remember that XXXY is a spectrum condition – its effects vary enormously in both incidence and severity. Many of the signs and symptoms of XXXY also occur in children with other conditions, or children who do not have an underlying diagnosis, which makes detecting XXXY in childhood more difficult. Some of the common and potential signs and symptoms in a child with XXXY are:
What health care professionals should be involved in an adolescent and adult who has XXXY?
Essential health care provider team:
What are common signs and symptoms for an adolescent and adult with a diagnosis of XXXY?
XXXY is often apparent at puberty, when the expected physical changes don’t occur. It is important for health professionals to remember that the appearance of signs and symptoms of XXXY 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 XXXY. Some of the common and potential signs and symptoms in an adolescent and adult with XXXY include:
What are common health implications for a child and individual with a diagnosis of XXXY?
It is essential that health care providers understand the health implications associated with XXXY and recognise that compared with males in the general population, XXXY 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 XXXY:
Health care providers can have a huge positive impact on a person’s life who has XXXY. 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 XXXY.
Together we can all make an immense positive change to increasing early diagnoses and decreasing the health impacts that XXXY has on a child and individual.