XYY Syndrome

NORD gratefully acknowledges Professor Rhoshel K. Lenroot, MD, Chair of Infant, Child, and Adolescent
Psychiatry, University of New South Wales; Director of Child and Adolescent Mental Health Services,
South Eastern Sydney Local Health District; Neuroscience Research Australia (NeuRA), for assistance in
the preparation of this report.

Synonyms of XYY Syndrome

47, XYY syndrome

Jacob's syndrome

XYY karyotype

YY syndrome

General Discussion
Summary
XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the
presence of an extra Y chromosome. Males normally have one X and one Y
chromosome. However, individuals with this syndrome have one X and two Y
chromosomes. Affected individuals are usually very tall. Many experience severe acne
during adolescence. Additional symptoms may include learning disabilities and
behavioral problems such as impulsivity. Intelligence is usually in the normal range,
although IQ is on average 10-15 points lower than siblings.
Introduction
In the past, there were many misconceptions about this disease. It was sometimes
called the super-male disease because men with this syndrome were thought to be
overly-aggressive and lacking in empathy. Recent studies have shown that this is not
the case. Although individuals with XYY syndrome have an increased risk for learning
disabilities and behavioral problems, they are not overly aggressive, nor are they at an
increased risk of any serious mental illness. Because these boys are at a higher risk for
having learning disabilities, they may benefit from speech therapy, tutoring, and general
awareness of the specific issues they struggle with. Although the first years of school
may be more challenging for boys with XYY syndrome, they generally go on to lead full,
healthy, and normal lives.

Signs & Symptoms

Characteristics of XYY syndrome are often subtle and do not necessarily suggest a
serious chromosomal disorder. Thus, males with this condition are often undiagnosed or
misdiagnosed. The most common physical difference is increased height, which usually

becomes apparent after the age of five or six, and results in an average height of about
6 feet, 3 inches by adulthood. Some individuals with XYY also develop severe cystic
acne during adolescence. Fertility and sexual development are normal. Besides the
potential for increased height, most affected individuals typically have a normal physical
appearance (phenotype).
Boys with XYY syndrome typically have normal intelligence, although, on average, IQ is
10 to 15 points lower than siblings. Affected boys may exhibit mild delays in reaching
developmental milestones. Learning disabilities have been reported in up to 50 percent
of cases, most commonly speech delays and language problems. Reading difficulties
are common due to an increased incidence of dyslexia.
In some cases, affected individuals develop behavioral problems such as an explosive
temper, hyperactivity, impulsivity, defiant actions, or, in some cases, antisocial behavior.
There is a higher rate of attention deficit and hyperactivity disorder and a smaller
increased risk for having an autism spectrum disorder.

Causes
XYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y
chromosome. Normally, males have 46 chromosomes including one X and one Y
chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y
chromosomes. Most cases of XYY syndrome are due to a cell division error in the
sperm prior to conception. Rarely, the cell division error occurs after conception
resulting in a mosiac of cells with 46 chromosomes and 47 chromosomes. The exact
cause for why these errors in cell division occur is not understood.

Affected Populations
XYY syndrome is a rare chromosomal disorder present at birth that affects only males. It
is estimated to occur in approximately one in 1,000 live births.

Related Disorders
Symptoms of the following disorders can be similar to those of XYY syndrome.
Comparisons may be useful for a differential diagnosis:
Klinefelter syndrome is associated with a group of chromosomal disorders in males in
which one or more extra X chromosomes are present. Males with the classic form of the
disorder have one extra X chromosome. Males with variant forms of Klinefelter
syndrome have additional X and/or Y chromosomes. The extra X and/or Y chromosome
can affect physical, developmental, behavioral, and cognitive functioning. Common
physical features may include tall stature, lack of secondary pubertal development,
small testes (hypogonadism), delayed pubertal development, and breast development
(gynecomastia) in late puberty. These features may be associated with low testosterone
level and elevated gonadotropin levels. (For more information on this disorder, choose
Klinefelter as your search term in the Rare Disease Database.)
Sotos syndrome is a variable genetic disorder characterized by excessive growth before
and after birth. One of the major features of Sotos syndrome is a particular facial

appearance that includes facial flushing, an abnormally prominent forehead (frontal

bossing), down-slanting eyelid folds (palpebral fissures), prominent, narrow jaw, a long
narrow face and a head shape that is similar to an inverted pear. Height and head
circumference are measured to be greater than average for most affected children.
Developmental delays are present in most children with Sotos syndrome and can
include motor and language delays as well as mental retardation ranging from mild to
severe. Other problems associated with Sotos syndrome include jaundice in newborns,
curved spine (scoliosis), seizures, crossed eyes (strabismus), conductive hearing loss,
congenital heart defects, kidney abnormalities and behavioral problems. Affected
individuals also have a slightly increased risk to develop specific types of tumors. Sotos
syndrome is caused by an abnormality (mutation) in the NSD1 gene. (For more
information on this disorder, choose Sotos as your search term in the Rare Disease
Database.)
Marfan syndrome is a genetic disorder that affects connective tissue, which is the
material between cells of the body that gives the tissues form and strength. Connective
tissue is found all over the body and multiple organ systems may be affected in
individuals with Marfan syndrome. The heart and blood vessels (cardiovascular),
skeletal, and eye (ocular) systems are most often affected. Major symptoms include
overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of
the spine (scoliosis), indentation or protrusion of the chest wall (pectus), dislocation of
the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm)
and tear (dissection) of the main artery that carries blood away from the heart (aorta),
floppiness of the mitral valve (mitral valve prolapse) and backward flow of blood through
the aortic and mitral valves (aortic and mitral regurgitation). The specific symptoms and
the severity of Marfan syndrome vary greatly from case to case. Marfan syndrome is
inherited as an autosomal dominant trait. Defects or disruptions (mutations) of the
fibrillin-1 (FBN1) gene have been linked to Marfan syndrome and related disorders..
(For more information on this disorder, choose Marfan as your search term in the Rare
Disease Database.)

Diagnosis
A diagnosis of XYY syndrome is made based upon a thorough clinical evaluation, a
detailed patient history, and specialized tests (i.e., chromosomal analysis) that detect
the presence of an extra Y chromosome (47,XYY karyotype).
A diagnosis of XYY syndrome may be made before birth (prenatally) through
amniocentesis or chorionic villus sampling (CVS). During amniocentesis, a sample of
fluid that surrounds the developing fetus is removed and analyzed, while CVS involves
the removal of tissue samples from a portion of the placenta. Chromosomal studies
performed on such fluid or tissue samples may reveal the presence of an extra Y
chromosome.
Clinical Testing and Work-Up
Speech and language assessment should occur during the first 24 months. Reading
assessment should occur by school age to rule out dyslexia. Behavioral assessment

should be considered for children who are having difficulty with symptoms such as
impulsivity, poor attention, or social skills.

Standard Therapies
Treatment
Treatment of XYY syndrome is symptomatic and supportive. Speech therapy,
occupational therapy, or assistance for learning disabilities in the school setting may be
of benefit. In most cases, affected individuals are very responsive to early intervention
and treatment, and problems may resolve altogether within a few years. Treatment of
acne may help an affected individual's self-image. Attention deficit and hyperactivity
disorder, difficulties with social interactions, or other behavioral problems can be treated
with therapy or medication the same as in individuals who do not have XYY.

Investigational Therapies
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All
studies receiving U.S. government funding, and some supported by private industry, are
posted on this government website.