Turner syndrome is one of the most common chromosomal abnormalities, occurring in

approximately 1 in 2000 live-born female infants.[1, 2] Turner syndrome (see the image below) is
caused by the absence of one set of genes from the short arm of one X chromosome.

Generalized lymphedema is seen here

in an infant with Turner syndrome. The loose skin folds around the neck will form a webbed
neck later in life.

Signs and symptoms

At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema.
In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a
characteristic sausage-like appearance to the fingers and toes. Infants also have a higher
incidence of congenital hip dislocation.
During childhood, girls with Turner syndrome usually present with short stature.[3] In older
adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as
well as short stature.
Short stature

Growth rate in childhood is slightly slower; before age 11 years, some girls have height
and growth rates that are well within the normal range, but heights are typically below the
50th percentile [3]

The adolescent growth spurt is essentially absent

Puberty

Adrenarche, the beginning of pubic hair growth, occurs at a normal age

Breast development is absent when ovarian failure occurs before puberty

Primary or secondary amenorrhea occurs with ovarian failure

Other characteristic physical findings

Dental: A high arched palate, sometimes with dental crowding or malocclusion

Nails: Hypoplastic or hyperconvex nails

Nevi: Excessive numbers of nevi, when compared to other family members

Webbed neck: A broad neck and a low or indistinct hairline

Cubitus valgus (increased carrying angle)

Madelung deformities of the wrist

Short fourth and fifth metacarpals and metatarsals

Shield chest: The chest appears to be broad with widely spaced nipples

Lymphedema

Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; redgreen color blindness

Ears: Serous otitis media is more common [4] ; the auricles may be posteriorly rotated or
low set; hearing loss due to otosclerosis is common in adults

GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of
Crohn disease and ulcerative colitis is also increased

Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to
short stature

Hypertension: May be caused by coarctation of the aorta or renal anomalies but often
occur even in the absence of such findings

Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart [5] ,

coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood

Thyroid: Hypothyroidism develops in 10-30% of patients [6] and is often associated with
thyroid enlargement

Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a
result of resolving lymphedema and occasionally is observed after infancy

Turner syndrome, a condition that affects only girls and women, results when a sex
chromosome (the X chromosome) is missing or partially missing. Turner syndrome can
cause a variety of medical and developmental problems, including short height, failure to
start puberty, infertility, heart defects, certain learning disabilities and social adjustment
problems.

Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early
childhood. Occasionally the diagnosis is delayed until the teen or young adult years in
those who have mild signs and symptoms of Turner syndrome.

Nearly all girls and women with Turner syndrome need ongoing medical care from a
variety of specialists. Regular checkups and appropriate care can help most girls and
women lead relatively healthy, independent lives.

Turner syndrome is a chromosomal condition that affects development in females. The

most common feature of Turner syndrome is short stature, which becomes evident by
about age 5. An early loss of ovarian function (ovarian hypofunction or premature
ovarian failure) is also very common. The ovaries develop normally at first, but egg cells
(oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many
affected girls do not undergo puberty unless they receive hormone therapy, and most are
unable to conceive (infertile). A small percentage of females with Turner syndrome retain
normal ovarian function through young adulthood.

About 30 percent of females with Turner syndrome have extra folds of skin on the neck
(webbed neck), a low hairline at the back of the neck, puffiness or swelling
(lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One
third to one half of individuals with Turner syndrome are born with a heart defect, such as
a narrowing of the large artery leaving the heart (coarctation of the aorta) or
abnormalities of the valve that connects the aorta with the heart (the aortic valve).
Complications associated with these heart defects can be life-threatening.

Most girls and women with Turner syndrome have normal intelligence. Developmental
delays, nonverbal learning disabilities, and behavioral problems are possible, although
these characteristics vary among affected individuals.

How common is Turner syndrome?

This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more
common among pregnancies that do not survive to term (miscarriages and stillbirths).

What are the genetic changes related to Turner

syndrome?

Turner syndrome is related to the X chromosome, which is one of the two sex
chromosomes. People typically have two sex chromosomes in each cell: females have
two X chromosomes, while males have one X chromosome and one Y chromosome.
Turner syndrome results when one normal X chromosome is present in a female's cells
and the other sex chromosome is missing or structurally altered. The missing genetic
material affects development before and after birth.

About half of individuals with Turner syndrome have monosomy X, which means each
cell in the individual's body has only one copy of the X chromosome instead of the usual
two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is
partially missing or rearranged rather than completely absent. Some women with Turner
syndrome have a chromosomal change in only some of their cells, which is known as
mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said
to have mosaic Turner syndrome.

Researchers have not determined which genes on the X chromosome are associated with
most of the features of Turner syndrome. They have, however, identified one gene called
SHOX that is important for bone development and growth. The loss of one copy of this
gene likely causes short stature and skeletal abnormalities in women with Turner
syndrome.

Read more about the SHOX gene and the X chromosome.

Can Turner syndrome be inherited?

Most cases of Turner syndrome are not inherited. When this condition results from
monosomy X, the chromosomal abnormality occurs as a random event during the
formation of reproductive cells (eggs and sperm) in the affected person's parent. An error
in cell division called nondisjunction can result in reproductive cells with an abnormal
number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome
as a result of nondisjunction. If one of these atypical reproductive cells contributes to the
genetic makeup of a child, the child will have a single X chromosome in each cell and
will be missing the other sex chromosome.

Mosaic Turner syndrome is also not inherited. In an affected individual, it occurs as a

random event during cell division in early fetal development. As a result, some of an

affected person's cells have the usual two sex chromosomes, and other cells have only
one copy of the X chromosome. Other sex chromosome abnormalities are also possible in
females with X chromosome mosaicism.

Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed
from one generation to the next.

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive
development. Its signs and symptoms vary among affected individuals.

Affected individuals typically have small testes that do not produce as much testosterone
as usual. Testosterone is the hormone that directs male sexual development before birth
and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty,
breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have
biological children (infertility). Some affected individuals also have genital differences
including undescended testes (cryptorchidism), the opening of the urethra on the
underside of the penis (hypospadias), or an unusually small penis (micropenis).

Older children and adults with Klinefelter syndrome tend to be taller than their peers.
Compared with unaffected men, adults with Klinefelter syndrome have an increased risk
of developing breast cancer and a chronic inflammatory disease called systemic lupus
erythematosus. Their chance of developing these disorders is similar to that of women in
the general population.

Children with Klinefelter syndrome may have learning disabilities and delayed speech
and language development. They tend to be quiet, sensitive, and unassertive, but
personality characteristics vary among affected individuals.

How common is Klinefelter syndrome?

Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of

Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns.

Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition

may not be identified in people with mild signs and symptoms. Additionally, the features
of the condition vary and overlap significantly with those of other conditions.

What are the genetic changes related to Klinefelter

syndrome?

Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex

chromosomes). People typically have two sex chromosomes in each cell: females have
two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY).

Most often, Klinefelter syndrome results from the presence of one extra copy of the X
chromosome in each cell (47,XXY). Extra copies of genes on the X chromosome
interfere with male sexual development, often preventing the testes from functioning
normally and reducing the levels of testosterone. Most people with an extra X
chromosome have the features described above, although some have few or no associated
signs and symptoms.

Some people with features of Klinefelter syndrome have more than one extra sex
chromosome in each cell (for example, 48,XXXY or 49,XXXXY). These conditions,
which are often called variants of Klinefelter syndrome, tend to cause more severe signs
and symptoms than classic Klinefelter syndrome. In addition to affecting male sexual
development, variants of Klinefelter syndrome are associated with intellectual disability,
distinctive facial features, skeletal abnormalities, poor coordination, and severe problems
with speech. As the number of extra sex chromosomes increases, so does the risk of these
health problems.

Some people with features of Klinefelter syndrome have the extra X chromosome in only
some of their cells; in these individuals, the condition is described as mosaic Klinefelter
syndrome (46,XY/47,XXY). Individuals with mosaic Klinefelter syndrome may have
milder signs and symptoms, depending on how many cells have an additional X
chromosome.

Read more about the X chromosome.

Can Klinefelter syndrome be inherited?

Klinefelter syndrome and its variants are not inherited; these chromosomal changes
usually occur as random events during the formation of reproductive cells (eggs and
sperm) in a parent. An error in cell division called nondisjunction results in a
reproductive cell with an abnormal number of chromosomes. For example, an egg or
sperm cell may gain one or more extra copies of the X chromosome as a result of
nondisjunction. If one of these atypical reproductive cells contributes to the genetic
makeup of a child, the child will have one or more extra X chromosomes in each of the
body's cells.

Mosaic 46,XY/47,XXY is also not inherited. It occurs as a random event during cell
division early in fetal development. As a result, some of the body's cells have one X
chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the
X chromosome (47,XXY).

Where can I find information about diagnosis or

management of Klinefelter syndrome?

These resources address the diagnosis or management of Klinefelter syndrome and may
include treatment providers.

Klinefelter syndrome is a genetic disorder that affects males. Klinefelter syndrome occurs
when a boy is born with one or more extra X chromosomes. Most males have one Y and
one X chromosome. Having extra X chromosomes can cause a male to have some
physical traits unusual for males.

Many men with an extra X chromosome are not aware that they have it, and they lead
normal lives. Klinefelter syndrome occurs in about 1 out of 1,000 males.

What causes Klinefelter syndrome?

The presence of an extra X chromosome in males most often occurs when the genetic
material in the egg splits unevenly. But it can also occur when the genetic material in the
sperm splits unevenly. Even though Klinefelter syndrome is a genetic disorder, it is not
passed down through families. So, parents who have a child with Klinefelter syndrome
are not any more likely than other couples to have another child with the condition.

What are the symptoms?

Many men who have Klinefelter syndrome do not have obvious symptoms. Others have
sparse body hair, enlarged breasts, and wide hips. In almost all men the testicles remain
small. In some men the penis does not reach adult size. Their voices may not be as deep.
They usually cannot father children. But they can have a normal sex life.

Some boys with Klinefelter syndrome have language and learning problems.

See a picture of a male with Klinefelter syndrome

How is Klinefelter syndrome diagnosed?

Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the
boy's testicles fail to grow normally and you may start to notice other symptoms.

To find out if your son has Klinefelter syndrome, your doctor will ask questions about his
past health, do a physical exam, and order a chromosome test called a karyotype.

In adult men, lab tests in addition to a karyotype may be done, such as hormone tests or a
semen analysis, if Klinefelter syndrome is suspected.

If you are pregnant and at risk for having a child with Klinefelter syndrome, tests may be
done. Klinefelter syndrome can be detected before birth (prenatally) through genetic tests
on cells collected from amniocentesis or chorionic villus sampling (CVS). But this is not
routinely done.

Focuses on specific behavioral outcomes;

Addresses individual values and group norms that support health-enhancing behaviors;

Focuses on increasing personal perceptions of risk and harmfulness of engaging in

specific health risk behaviors, as well as reinforcing protective factors;

Addresses social pressures and influences;

Builds personal and social competence;

Provides functional knowledge that is basic, accurate and directly contributes to healthpromoting decisions and behaviors;

Uses strategies designed to personalize information and engage students;

Provides age- and developmentally-appropriate information, learning strategies, teaching

methods and materials;

Incorporates learning strategies, teaching methods and materials that are culturally
inclusive (an effective curriculum has materials that are free of culturally biased
information and includes information, activities, and examples that are inclusive of
diverse cultures and lifestyles;

Provides adequate time for instruction and learning;

Provides opportunities to reinforce skills and positive health behaviors;

Provides opportunities to make connections with other influential persons; and

Includes teacher information and plan for professional development and training to
enhance effectiveness of instruction and student learning. Instruction by qualified
sexuality education teachers is essential for student achievement.

School nurses can enhance the effectiveness of sexual health education by ensuring that
medically accurate, developmentally appropriate and evidence-based sexual health education
provides students with the skills and resources that help them make informed and responsible

decisions (National Sexuality Education Standards, 2012). By collaborating with parents,

health educators, curriculum specialists and other stakeholders, school nurses provide support for
developing and implementing school health education about human sexuality that is effective in
reducing students sexually-related risk behaviors and concurrently, improving students
academic success.