Turner Syndrome
Problems with the wall of the aorta,
• Turner syndrome, a condition that affects
only females, results when one of the X
chromosomes (sex chromosomes) is missing.
• Affects about 1 in every 2,000 baby girls.
• It is the most common sex chromosomal
abnormality found in females.
• An early loss of ovarian function is also very
common.
• TS was first discovered in the United States
in 1938 by Dr. Henry Turner.
• It is no
Etiology
Most people are born with two sex chromosomes.
Males inherit the X chromosome from their mothers
and the Y chromosome from their fathers. Females
inherit one X chromosome from each parent. In
females who have Turner syndrome, one copy of the
X chromosome is missing, partially missing or
changed.
• Monosomy The complete absence of an X
chromosome generally occurs because of an
error in the father's sperm or in the mother's
egg. This results in every cell in the body
having only one X chromosome.
Life expectancy
Life expectancy is slightly reduced (76 years old),
cardiovascular disease is the most common cause of
death in adults with TS. But it can be improved with
regular health checks to identify and treat potential
problems at an early stage.
Symptoms:
Turner syndrome can cause a variety of medical
and developmental problems.
Before birth
Prenatal ultrasound of a baby with Turner
syndrome may show:
• Large fluid collection on the back of the neck
or other abnormal fluid collections.
• Heart abnormalities
-
the risk for a tear in the inner layer of
the aorta
- Bicuspid aortic valve, the aortic valve
has only two leaflets, or cusps,
instead of the normal three.
• Abnormal kidneys
- structural renal malformation
including kidneys abnormalities.
At birth or during infancy
• Wide or weblike neck
• Low-set ears
• Broad chest with widely spaced nipples
• Swelling of the hands and feet, especially at
birth
• Slightly smaller than average height at birth
• Slowed growth
• Cardiac defects
• Low hairline at the back of the head
• Receding or small lower jaw
• Short fingers and toes
In childhood, teens and adulthood
• Slowed growth
• No growth spurts at expected times in
childhood
• Adult height significantly less than might be
expected for a female member of the family
• Gonadal dysgenesis
Failure of the ovaries to develop properly. It can
cause the loss of ovarian function early during
childhood (premature ovarian failure).
“What hormones are affected by Turner’s
Syndrome?”
• Oestrogen and Progesterone.
- Estrogen prompts the body into beginning
puberty and maintains sexual development.
- Progesterone helps to induce menstrual
periods.
- Failure to begin sexual changes expected
during puberty
- Sexual development that "stalls" during
teenage years
- Inability to conceive a child without
fertility treatment
Diagnosis
- Karyotyping is a laboratory test that
evaluates the number and structure of
chromosomes. Karyotyping can be done
on almost any type of tissue.
Before birth.
- Chorionic villus sampling. This
involves taking a small piece of tissue
from the developing placenta. The
 placenta contains the same genetic behaviour and how to respond
material as the baby. The chorionic villus appropriately.
cells can be sent to the genetics lab for
chromosome studies. This is usually
Infant
done between 11 and 14 weeks of
pregnancy.
- Amniocentesis. In this test, a sample of
the amniotic fluid is taken from the
uterus. The baby sheds cells into the
amniotic fluid.
- Ultrasound during pregnancy may
show that the baby has some features of
TS. May see heart problems or fluid
around the neck.

Treatment

There's no cure for Turner syndrome but many of

the associated symptoms can be treated.

• Growth hormone therapy — usually given

Toddler
daily as an injection of recombinant human
growth hormone — is typically
recommended to increase height as much as
possible at appropriate times during early
childhood until the early teen years. Starting
treatment early can improve height and bone
growth. Growth hormone therapy is a daily
injection, started at around 5 or 6 years of age
or later.
• Estrogen therapy. Most girls with Turner
syndrome need to start estrogen and related Adolescence
hormone therapy in order to begin puberty.
Often, estrogen therapy is started around age
11 or 12 years. Estrogen helps to promote
breast development and improve the size
(volume) of the uterus. Estrogen helps with
bone mineralization, and when used with
growth hormone, may also help with height.
Estrogen replacement therapy usually
continues throughout life, until the average
age of menopause is reached.
• Progesterone replacement therapy is
usually started after oestrogen therapy and Adulthood
will cause monthly periods to start. It also
may be given alone or combined in a tablet
or patch with oestrogen.
• If structural heart defects are present, cardiac
surgery may be needed.
• Psychological therapy such as counselling
or cognitive behavioural therapy (CBT), may
be recommended. Some girls and women
with Turner syndrome may develop
psychological problems, such as low self-
esteem or depression. Doctors sometimes
attribute these problems to physical
appearance or infertility, but they're more
commonly related to difficulties
understanding other people's social