48,XXYY syndrome
Encyclopedia
48,XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome makes a male. Therefore, XXYY only affects males. Males affected with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as 48,XXYY syndrome. It is estimated that XXYY affects one in every 18,000-40,000 male births.
, England
in 1960.
It was described in a 15-year-old mentally challenged boy who had signs of Klinefelter syndrome, however his chromosome testing showed 48,XXYY instead of 47,XXY.
XXYY syndrome was originally considered to be a variation of Klinefelter syndrome (47,XXY) because of shared physical and medical features resulting from the presence of an extra X chromosome including tall stature, the development of testosterone deficiency in adolescence and/or adulthood (hypergonadotropic hypogonadism), and infertility. However, recent research shows some important differences in males with 48,XXYY compared to 47,XXY. The most important differences result from the effects of the extra X and Y chromosome on neurodevelopment, leading to higher rates of developmental delays in early childhood, learning disability or intellectual disability, adaptive functioning (life skills) difficulties, neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorders, and psychological/behavioral problems including anxiety, depression, and mood dysregulation. Also, a larger percentage of males with XXYY have additional medical problems such as seizures, congenital elbow malformations (radioulnar synostosis), and tremor compared to males with XXY. XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47,XXY, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48,XXYY compared to 47,XXY. However, for the psychological and behavioral symptoms of XXYY syndrome, more extensive evaluations, interventions, and supports are usually needed compared to 47,XXY due to more complex neurodevelopmental involvement. There is significant variability between individuals in the number and severity of the medical and neurodevelopmental problems associated with XXYY, and some individuals have mild symptoms while others are more significantly affected.
is done to diagnose XXYY syndrome. Treatment consists of medications, behavioral therapies and intensive community support.
History
The first published report of a boy with a 48,XXYY karyotype was by Sylfest Muldal and Charles H. Ockey in ManchesterManchester
Manchester is a city and metropolitan borough in Greater Manchester, England. According to the Office for National Statistics, the 2010 mid-year population estimate for Manchester was 498,800. Manchester lies within one of the UK's largest metropolitan areas, the metropolitan county of Greater...
, England
England
England is a country that is part of the United Kingdom. It shares land borders with Scotland to the north and Wales to the west; the Irish Sea is to the north west, the Celtic Sea to the south west, with the North Sea to the east and the English Channel to the south separating it from continental...
in 1960.
It was described in a 15-year-old mentally challenged boy who had signs of Klinefelter syndrome, however his chromosome testing showed 48,XXYY instead of 47,XXY.
XXYY syndrome was originally considered to be a variation of Klinefelter syndrome (47,XXY) because of shared physical and medical features resulting from the presence of an extra X chromosome including tall stature, the development of testosterone deficiency in adolescence and/or adulthood (hypergonadotropic hypogonadism), and infertility. However, recent research shows some important differences in males with 48,XXYY compared to 47,XXY. The most important differences result from the effects of the extra X and Y chromosome on neurodevelopment, leading to higher rates of developmental delays in early childhood, learning disability or intellectual disability, adaptive functioning (life skills) difficulties, neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorders, and psychological/behavioral problems including anxiety, depression, and mood dysregulation. Also, a larger percentage of males with XXYY have additional medical problems such as seizures, congenital elbow malformations (radioulnar synostosis), and tremor compared to males with XXY. XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47,XXY, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48,XXYY compared to 47,XXY. However, for the psychological and behavioral symptoms of XXYY syndrome, more extensive evaluations, interventions, and supports are usually needed compared to 47,XXY due to more complex neurodevelopmental involvement. There is significant variability between individuals in the number and severity of the medical and neurodevelopmental problems associated with XXYY, and some individuals have mild symptoms while others are more significantly affected.
Presentation
- Developmental delays
- Speech impairment
- Behavior outburst & mood swingsMood SwingsMood Swings is an album by Koby Israelite released in 2005 on Tzadik.- Track listing :# "Dror Ikra" - 3:03# "Return of the Idiots" - 2:19# "It Is Not a War Here" - 7:05# "Ethnometalogy" - 5:08# "Europa?" - 2:49# "Hiriya On My Mind" - 4:53...
- Learning disabilitiesLearning disabilityLearning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
- Intellectual impairment
- ADDAttention-deficit hyperactivity disorderAttention deficit hyperactivity disorder is a developmental disorder. It is primarily characterized by "the co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age.ADHD is the most commonly studied and...
symptoms - Autism spectrumAutism spectrumThe term "autism spectrum" is often used to describe disorders that are currently classified as pervasive developmental disorders. Pervasive developmental disorders include autism, Asperger syndrome, Childhood disintegrative disorder, Rett syndrome and Pervasive Developmental Disorder Not Otherwise...
disorders - Tall
- ScoliosisScoliosisScoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...
- ClinodactylyClinodactyly-References:...
- Low muscle toneMuscle toneIn physiology, medicine, and anatomy, muscle tone is the continuous and passive partial contraction of the muscles, or the muscle’s resistance to passive stretch during resting state. It helps maintain posture, and it declines during REM sleep.-Purpose:Unconscious nerve impulses maintain the...
- Flat feetFlat feetFlat feet is a formal reference to a medical condition in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-complete contact with the ground...
- SterilityInfertilityInfertility primarily refers to the biological inability of a person to contribute to conception. Infertility may also refer to the state of a woman who is unable to carry a pregnancy to full term...
- Delayed sexual development
- Undescended testes
- Low testosteroneTestosteroneTestosterone is a steroid hormone from the androgen group and is found in mammals, reptiles, birds, and other vertebrates. In mammals, testosterone is primarily secreted in the testes of males and the ovaries of females, although small amounts are also secreted by the adrenal glands...
Diagnosis
A karyotypeKaryotype
A karyotype is the number and appearance of chromosomes in the nucleus of an eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.p28...
is done to diagnose XXYY syndrome. Treatment consists of medications, behavioral therapies and intensive community support.