Turner Syndrome

What is Turner Syndrome?

Turner Syndrome is rare but rando genetic condition that affects development in females.
a m
It was first discovered in 1938 by Dr. Henry Turner while studying a
group of 7 girls who all had the same unusual developmental and
physical features.

Clinically considered as a disease, but is not infectious, and is

associated with a range of health concerns.

Caused by the absence or abnormality of one of two sex

chromosomes.

Accounts to 10% of abortion cases in the US.

- occurs
It is sporadic and non heritable.
in approximately one out of every 2,000- 4,000
- female
NOT contagious
live births
- takes
the ageupof a parent,
0.04% ethnicity,
of female diet, or in
population other
the factors
US are
unrelated to the conception
Turner Syndrome of a child with Turner syndrome.
Society, 2019
Signs and Symptoms:
Though every girl or woman with TS experiences her own unique symptoms and signs associated with the disorder,
there are common characteristics that they all typically share. There are various signs and symptoms of TS, which can
range from very mild to more severe.

Distinctive physical features may also be associated with the Turner syndrome. These include:
• a wide, webbed neck
• a low or indistinct hairline in the back of the
head
• swelling (lymphedema) of the hands and
feet
• broad chest and widely spaced nipples
(aplasia)
• outward turned elbows (cubitus valgus)
• low-set ears
• excess skin on the neck
• significant ophthalmic morbidity
• Short stature due to scoliosis
• soft upturned nails
• pigmented moles
Cause and types:
Monosomy or Partial Monosomy – a form of aneuploidy which refers to the absence of one member of a pair
of chromosomes. Therefore, there is a total of 45 chromosomes in each cell of the body, rather than 46.
Partial monosomy occurs when a portion of one chromosome in a pair is missing.
A normal functioning person is born with 23 pairs of
chromosomes.
One pair of chromosomes (sex chromosomes) determines the
gender.
Mother = X Father = X/Y
Female = XX Male = XY

A girl with Turner Syndrome only has one full functioning

chromosome.

Types:
Classic Turner Syndrome – where one of the X chromosomes is
completely missing (Monosomy).
Mosaic Turner Syndrome – where one X chromosome is complete
and the other is partially missing or abnormal in some way
(Partial Monosomy).
Diagnosis
The condition may be diagnosed at various life stages including:

before birth (prenatally) – usually if a prenatal karyotyping or amniocentesis (taking a sample of amniotic fluid) has been
performed or abnormalities are seen during an ultrasound.
at birth – due to certain physical features.
in childhood – when the young girl doesn’t grow at a similar rate to her peers.
during the teenage years – when puberty fails to arrive.
in adulthood – during investigations for infertility.
Turner’s syndrome is diagnosed using a number of tests including:
• amniocentesis and chorionic villus sampling (before birth)
• clinical history
• physical examination
• psychological and educational assessment
• blood tests and chromosome analysis
• genetic tests
Whatever the age, the test used to diagnose Turner syndrome is the same—and it is known as a karyotype.
Karyotyping is a blood test that involves analyzing the 23 pairs of chromosomes by producing an image of it. It's often
used when Turner syndrome is suspected. That way, your doctor can identify whether one of your sex chromosomes is
missing or partially missing
Complications
Some of the most common medical complications that may need to be considered include:

• Heart Problems
About 30% of people with Turner syndrome have heart problems—and these most commonly involve the
aortic valve and the aorta (i.e. High Blood Pressure). Probable reason is that the various structures of the heart
may fail to develop normally in utero.
• Kidney Problems
Kidney complications are common in girls with TS—about 30% experience kidney problems. This could be
caused by a variety of things related to Turner syndrome. For instance, TS may have prevented the kidneys
from forming into the correct shape, or the kidneys may be in an unusual position.
• Eye and vision Problems
People with TS may experience a number of eye problems—lazy eye, droopy upper eyelids, and congenital
glaucoma (pressure inside the eye present at birth). But the most common eye condition associated with
Turner syndrome is crossed or wandering eyes.
• Ear and Hearing Problems
Turner syndrome affects the healthy development of your ears, so ear problems are common in girls with TS.
• Bone diseases
A heightened osteoporosis risk in people with TS is related to diminished estrogen production. Estrogen
supports bone growth.
• Hormonal Problems
Arguably the most troubling aspect of TS. Women with TS have trouble having conceiving naturally because
they are susceptible to early ovarian insufficiency. Even with years of estrogen replacement therapy, it's rare
for them to naturally conceive a child.

- Most women with Turner's syndrome have ovarian dysgenesis; therefore, they are usually infertile, and in
very rare cases have spontaneous menses followed by early menopause.

- Only 2% of the women have natural pregnancies, with high rates of miscarriages, stillbirths and malformed
babies.
Neurocognitive Profile
Turner syndrome (TS) is associated with a characteristic neurocognitive profile which includes average
to low full scale intelligence quotient (FSIQ) with a significant discrepancy between verbal IQ (VIQ) and
performance IQ (PIQ).

Intelligence is usually normal in females with Turner syndrome. However, affected females may develop learning
disabilities, especially difficulties with visual-spatial relationships. An example would be right-left disorientation.

Affected individuals may have difficulties with directional sense, logic, nonverbal memory and attention.
Affected females may also have average verbal skills but may experience difficulty in certain social situations.

They also have weak non verbal skills like visuospatial, perceptual, processing speed and executive
functioning leading to problems in academics, especially mathematics.

Mental Retardation is a rare occurrence and is unrelated to TS.

Treatment
TS as a disease is not directly treated by a doctor, instead, the treatment is directed toward the
individual health concerns that arise for each girl or woman with TS. These symptoms should be
monitored and treated by an appropriate specialist.

Treatment should be individualized and physicians, families, and patients should decide on treatment
options together. Genetic counseling is also recommended for affected individuals and their families.

Major advances in treatment include:

• Growth hormone therapy to achieve greater height.

• Estrogen replacement therapy to mimic natural estrogen.
• Somatropin to remediate growth failure.
• Hormone replacement therapy to trigger menstruation and the development of secondary sexual
characteristics such as breasts and enable reproduction.

Other treatments specific to TS include advances in heart surgery, hearing evaluations, in-vitro
fertilization, and social and psychological testing.
Prognosis
The long-term outlook for people with Turner syndrome is typically good.

Life expectancy is slightly shorter than average but may be improved by addressing and treating
associated chronic illnesses, such as obesity and hypertension.

Regular checkups have shown substantial improvements in the quality and length of life for women
with Turner syndrome.

While almost all women are infertile, pregnancy with donor eggs and assisted reproductive
technology is possible.

Even with growth hormone therapy, most affected people are shorter than average. Fortunately,
having short stature do not usually present serious medical concerns.

Although, there is no cure for TS, there are ways to manage it. With the help of medical and technological
advancements and HOPEFULLY, a more accepting and educated community, women with TS could still be
able to live a normal, happy life.
“While I know this TS journey is
lifelong and there have been and will
be more tough times, it is all worth it. I
would not be the person I am today
without it, and it has forced me to
become a stronger, braver, and more
determined person. After all, I am 1
out of 2000.”

Brooke Kaczynski Person living with

Turner Syndrome
References:
• https://www.nhs.uk/conditions/turner-syndrome/
• https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome#diseaseCauseSection
• https://www.endocrineweb.com/conditions/turner-syndrome/turner-syndrome-overview
• https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome
• https://rarediseases.org/rare-diseases/turner-syndrome/
• https://www.turnersyndrome.org
• http://www.meddean.luc.edu/lumen/MedEd/genetics/diseases/turner.htm
• https://ghr.nlm.nih.gov/condition/turner-syndrome