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Turner Syndrome Symptoms & Complications
1. T U R N E R S S Y N D R O ME (XO)
A a m i n a h S a y e d , R a w a n A b d a l l a h , & S a f a A d o o k k a t t i l
2. B A C K G R O U N D
S C E N A R I O
My spouse and I are having a third child. After a prenatal genetic testing done we
discover that our expecting baby girl may have Turner’s Syndrome. What will this
mean for us, our family, and our baby girl?
This is a collection of reports we’ve put together for our expecting child, and for
other parents expecting a child with this condition.
● Doctor’s Report
● Genetic Counselor’s Report
● Parent Report
● Community Resources
4. In 1938, An American doctor named Henry Turner
described a syndrome in women with short build
and lack in development of sex characteristics. Dr
Turner was an endocrinologist from Oklahoma City
who discovered Turner Syndrome when a group of
women he was treating for dwarfism didn't respond
to treatments.He also noticed the neck-webbing
was a common feature. However the connection
between Turner Syndrome and the X chromosome
was not made until 1959.
Dr. Henry Turner
(1892-1970)
7. Symptoms to expect:
Girls and women who have Turner syndrome are affected
in various ways. Almost all girls with Turner syndrome will
grow up to be shorter than average, with underdeveloped
ovaries.
Girls with turner syndrome will show distinctive features
and many health conditions. They are usually born with
swelling in the hands and feet caused by the
accumulation of excess fluid in surrounding tissues. This
is known as lymphedema, and it typically clears after
birth.
Other symptoms that may have developed in the womb:
● swelling of the neck (cystic hygroma)
● being a small baby
● heart conditions
● kidney abnormalities
● thick neck tissue
● Excess fluid collection usually on back of neck,
however can occur on other parts of the body.
Unusual Growth
Babies with Turner's may grow at normal rates, until
three years of age. Once they reach three years of
age their growth slow down.
At puberty (usually at age 8 to 14), girls with Turner
syndrome will not have the normal growth spurt,
even with female oestrogen hormone replacement
(HRT).
Girls with Turner syndrome are typically short in
relation to the height of their parents. On average,
adult women with untreated Turner syndrome are
20cm (8 inches) shorter than adult women without
the syndrome. Treatment with additional high-dose
growth hormone reduces this difference by about
5cm (about 2 inches) on average.
8. Symptoms continued.
Sex Hormone Production
Ovaries are the pair of female reproductive
organs that produce eggs and sex hormones.
During puberty, a girl’s ovaries usually begin to
produce the sex hormones estrogen and, once
fully mature, progesterone. These are the cause
for monthly periods in females.
However 90% of girls with Turner Syndrome do
not produce enough of these sex
hormones(estrogen and progesterone). Lack of
these hormone can result in:
● it’s likely they will be infertile (unable to
have a baby) without assistance
● They may not begin sexual development
or fully develop breasts without female
hormone replacement therapy (HRT)
● Incomplete or no sexual development
● they may not start their monthly periods
naturally (they’ll need hormone treatment
at the age of puberty in order to get their
period).
About 10% of girls with Turner syndrome
experience some physical changes naturally
during puberty, but only a very few (1%) become
naturally pregnant.
10. Physical Symptoms
General Features
● Webbed Neck (a particularly short, wide
neck )
● a broad chest and widely spaced nipples
● arms that turn out slightly at the elbows
● a low hairline
● Heart and aorta abnormalities
● mouth abnormalities, which can cause
problems with the teeth
● Multiple moles on skin, spoon-shaped
nails
● a short fourth finger or toe
● Streak gonads
Webbed Neck
Low
Hairline
Spoon-shaped nails
Short
fourth
toe
Multiple moles
11. Physical Symptoms continued.
Eyes
● eyes that slant downwards
● droopy eyelids (ptosis)
● a squint (strabismus)
● lazy eye (amblyopia)
● cataracts – cloudy patches in the lens at
the front of the eye
● short-sightedness (myopia)
Ears
● low-set ears
● recurring middle ear infections (otitis
media) and glue ear during early childhood
● hearing loss – this can occur in later life,
but is often more severe and develops
earlier than the normal age-related decline
in hearing
Ptosis (droopy eyelids) Strabismus (a squint)
Otitis Media
(Picture shows
inner ear)
12. Associated Complications
Turner syndrome is often associated with a number of other health conditions. Some of these
include:
● Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in
heart structure that increase their risk of serious complications. Heart defects often include problems with the
aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body. (A very
common Heart issue is the constriction of aorta).
● High blood pressure. Women with Turner syndrome have an increased risk of high blood pressure — a
condition that increases the risk of developing diseases of the heart and blood vessels.
● Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of
nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
● Vision problems. Girls with Turner syndrome have an increased risk of weak muscle control of eye movements
(strabismus), nearsightedness and other vision problems.
13. Associated Complications continued.
● Kidney problems. Girls with Turner syndrome may have some malformation of the kidneys. Although these
abnormalities generally don't cause medical problems, they may increase the risk of high blood pressure and
urinary tract infections.
● Autoimmune disorders. Girls and women with Turner syndrome have an increased risk of an underactive
thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an
increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or
inflammatory bowel disease.
● Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal
curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner
syndrome are also at increased risk of developing weak, brittle bones (osteoporosis).
14. Associated Complications continued.
● Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However,
there is increased risk of learning disabilities, particularly with learning that involves spatial concepts,
math, memory and attention.
● Mental health issues. Girls and women with Turner syndrome may have difficulties functioning well in
social situations and have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
● Infertility. Most women with Turner syndrome are infertile. However, a very small number of women
may become pregnant naturally, and some can become pregnant with fertility treatment.
● Pregnancy complications. Because women with Turner syndrome are at increased risk of
complications during pregnancy, such as high blood pressure and aortic dissection, they should be
evaluated by a cardiologist before pregnancy.
15. Possible Difficulties
Learning difficulties
Most girls with Turner syndrome have good language
and reading skills. However, some may have behavioral,
social and specific learning difficulties.
Social intelligence
About a third of girls with Turner syndrome have
problems understanding social relationships because
of the way their brain develops. This can unfortunately
lead to difficulty to sustain friendships and leads to
relationship problems later in life, both at home and at
work.
Spatial awareness and numeracy (math)
Spatial awareness is the ability to understand
where you are in relation to objects or other
people.
More than 8 out of 10 females with Turner
syndrome have difficulty understanding spatial
relationships. This may cause problems when
learning to drive or following directions on a map.
A similar number have some degree of difficulty
learning or understanding maths. This is known
as dyscalculia.
16. Other Possible Difficulties
Attention and hyperactivity problems
Typically, girls with Turner syndrome will go through a phase
in childhood that involves:
● physical overactivity, such as constant fidgeting and
restlessness
● acting impulsively, such as breaking rules or having no
sense of danger
● having a short attention span and being easily
distracted
Attention and hyperactivity problems usually start occuring
around ages 3, but may not be a serious issue until she
starts school at around age 5.
Girls with Turner syndrome may have difficulty
settling in class as well.
Medicines usually given to treat symptoms of
attention deficit hyperactivity disorder (ADHD)
may not be as effective in cases of Turner
syndrome unfortunately.
The physical hyperactivity usually reduces
around the time the girl starts secondary school
at 11 years of age, however problems with
inattention can sometimes last longer, into the
teens.
17. Symptoms to note as your child grows
Prenatal or before birth
● Excess fluid collection on the back of neck or other
parts of the body
● Heart and kidney abnormalities
At birth or during infancy
● Wide or web-like neck
● Small lower jaw
● High, narrow roof of the mouth
● Low hairline at the back of the head
● Ears set a little lower than normal
● Broad chest with widely spaced nipples
● Arms turning outward at the elbows
● Short fingers and toes
● Narrow fingernails and toenails that are
turned upward
● Swelling of the hands and feet, especially at birth
● Reduced height at birth
● Delayed growth
Symptoms noted in older girls, teens, and young women
● Short height
● Delayed or no puberty
● Amenorrhea
● Incomplete sexual developments
● Learning disabilities
● Problems understanding social situations
19. Treatment
There is no cure for Turners unfortunately,
however there are treatments for the health problems
That develop
Health Checks
As a precaution for girls diagnosed with Turner
Syndrome, the following should be monitored
for occasionally throughout their life.
● Middle ear infection
● High blood pressure (Hypertension)
● Thyroid gland (Hypothyroidism)
● Glucose levels (Diabetes)
● Bone mineral density (Osteoporosis)
Specialists recommended for health checks
include:
● Endocrinologist (a specialists for glands
and hormones)
● Phycologist (a specialist to help with
behavioral, emotional, and educational
problems)
● Gynaecologist (a specialist for the female
reproductive system and breast)
● Geneticist ( a specialist in genetic and
inherited conditions)
● Nephrologist (specialist in kidneys and
urinalysis)
● ENT Specialist (ears, nose, & throat
specialist)
● Cardiologist (heart specialist)
20. Common Therapy Treatments
An endocrinologist (hormone and glands specialist) will carry regular
check ups and test. Based on results they will recommend appropriate
treatment.
The common treatments for nearly all girls and women with Turner
syndrome include hormone therapies:
● Growth Hormone Therapy: this is given as an injection to increase the
height of the patient.Symptoms such as growth deficit in girls with
Turner’s Syndrome can be restored by injections of human growth
hormones before growth is nearly complete.
● Estrogen Therapy: To begin puberty and sexual development.It
recommended throughout their life. Estrogen hormones are also
hormones responsible for sexual development. Estrogen also helps
prevent brittle bones (osteoporosis).
● Progesterone Replacement Therapy: Besides Estrogen, Progesterone are
also hormones responsible for sexual development.
● Psychological Therapy: counseling, cognitive behavioral therapy (CBT)
are recommended to help with self-esteem, depression, hyperactivity, and
other problems.
21. Growth Hormone Therapy
Hormones play a significant role in almost every body function
including growth. Those with Turner Syndrome, however produce a
deficit amount of hormones. Human growth hormones, or HGH are
especially crucial in growth development. To make up for the lack of
HGH, specialists recommend growth hormone therapy.
The goal of Growth Hormone Therapy is to enhance body shape,
height, metabolism, physical, and mental development. However, their
are a few side effects to note of this therapy. These side effects may
occur:
● Intracranial hypertension (Increased pressure inside of skull)
● Scoliosis (sideways curvature of the spine)
● Slipped capital Femoral Epiphysis (the ball at the head of the
femur (thighbone) slips off the neck of the bone in a backwards
direction.
Scoliosis Normal
22. Despite side-effects, overall many of my patients agree it increases quality of life.
The ideal age to start therapy has not been firmly decided. However, many studies show most effective
outcomes, are for treatment initiated 4 years prior to puberty. The earlier GH (Growth Hormone) treatment is
initiated is more likely to result in higher height gain and physical build. You should let your daughter start at
about ten years old.
Doses occur several times a week, or sometimes even daily- depending on the severity of the deficiency.
Treatment can be either self-administered or given by a doctor. Therapy can last for years, or until when the
girl is satisfied with her height or until little growth potential remains. There will be frequent checkups to
check for effectiveness of treatment.
Growth Hormone Therapy continued
23. Estrogen Therapy
Estrogen Therapy is highly recommended, to make up for lack of estrogen hormones (hormones responsible for sexual
and reproductive development, mainly in woman which are produced in the ovaries).
In girls with Turner syndrome, the ovaries (female reproductive organs) do not work properly. As a result, the girl may not
go through puberty and is likely to be unable to have a baby without help (be infertile).
Estrogen therapy is usually started around the time of normal puberty (around ages 9-11).
This therapy will help trigger changes an average girl would go through during puberty:
● Breast development
● Body hair
● Changes in Genitals
● More sweat
● Menstruation Cycles
● Secondary sex characteristics
Treatment can be given in the form of gels, tablets, or patches.
Doses usually start of low and gradually increases to adult doses.
I would recommend giving your daughter gels, and as she gets older give her the tablets.
24. Psychological Therapy
Most girls and women with Turner syndrome
develop psychological problems, such as low
self-esteem or depression.
They may have trouble understanding other
people's social behaviour and how to respond
appropriately. Because of this, problems often arise
at home, in school and in the workplace.
Psychological therapy, such as counselling or
cognitive behavioural therapy (CBT), are highly
recommended if your daughter faces these
problems.
Progesterone Replacement
Therapy
Progesterone is a female hormone important for the
regulation of ovulation and menstruation.
Progesterone replacement therapy is usually started
after estrogen therapy and will cause menstruation
cycles to start. It is also used to prevent overgrowth
in the lining of the uterus in postmenopausal
women who are receiving estrogen hormone
replacement therapy.
It may be consumed alone or combined in a tablet
or patch with estrogen.
Common Side Effects:
● drowsiness/ dizziness
● Breast pain
● Mood changes
● Headaches
● Constipation, Diarrhea
● Joint pain
● Swelling in hands or feet
Progesterone tablets
counseling
25. Recommended Medications
I personally recommend these to my patients diagnosed with Turner Syndrome.
(They are arranged from most popular to least popular)
To learn more more about the following medicines- risks, side effects, doses, best brands, etc.- in depth
click the link attached, however if you want to learn about the medicine in comparison with the other ones
listed click this link: https://www.drugs.com/condition/turner-s-syndrome.html
● Norditropin (Growth Hormone)/ https://www.drugs.com/cons/norditropin.html
● Oxandrolone (Anabolic Steroid)/ https://www.drugs.com/mtm/oxandrolone.html
● Humatrope (Growth Hormone)/ https://www.drugs.com/mtm/humatrope.html
● Somatropin (Growth Hormone)/ https://www.drugs.com/mtm/somatropin.html
● Oxandrin (Anabolic Steroid) / https://www.drugs.com/mtm/oxandrin.html
● Genotropin (Growth Hormone) / https://www.drugs.com/mtm/genotropin.html
● Nutropin (Growth Hormone) / https://www.drugs.com/cons/nutropin-subcutaneous-injection.html
● Norditropin FlexPro (Growth Hormone) / https://www.drugs.com/mtm/norditropin-flexpro-pen.html
● Nutropin AQ (Growth Hormone) / https://www.drugs.com/mtm/nutropin-aq-nuspin-10.html
● Zomacton (Growth Hormone) / https://www.drugs.com/mtm/zomacton.html
● Omnitrope (Growth Hormone) / https://www.drugs.com/omnitrope.html
26. Self-Care
Once your daughter starts going to school, she’s going to need to learn to take care
of herself.
1. Teach her about her condition
2. Advise her to eat a healthy, nutritious diet.
3. Get some Exercise regularly.
4. And most importantly, establish self-love
within her
27. N U T R I T I O N
R E C O M M E N D E D D I E T
➔ A low fat, low carbohydrate diet is
recommended for the patient.
➔ Foods with a good amount of calcium,
such as Cheese, Yogurt, and Beans, should
be included in their diet as well.
➔ Fruits that are full of calcium, such as
apricots, kiwi, and oranges should also be
included in the diet.
➔ Make sure to include daily intake of
calcium, for osteoporosis.
29. Statistics
How many people get this?
It is estimated that more than 70,000 women and girls in the United States have Turner syndrome out of a
total population of 327.17 million in the entire United States. Each baby born has a chance of around 2.9%
of having Turner Syndrome.
How common is it?
This condition is rare (fewer than 200,000 cases per year in the US) and occurs in about 1 in 2,500
newborn girls worldwide, however it is much more common relatively to other disorders and among
pregnancies that do not survive.
Who is most likely to get it?
There are no known racial or ethnic factors that influence chance of the disorder,
however it is only present in females, with a 0% possibility of it being found in males.
31. Research & Progress for a Cure
Scientists across the world are working towards greater discoveries to impact quality of life through
translational research to integrate advancements in molecular biology with clinical trials, taking research
from the bench-to-bedside.
Since its inception in 2009, TSF has supported research initiatives by referring families affected by TS to
participate in studies at such pioneering facilities as Stanford Center for Interdisciplinary Brain Science
Research, Nemours Children’s Hospital, the National Institutes of Health, University of Chapel Hill, Rush
University, Arcadia University, Coriell Laboratories/NGIMS and JS Genetics Laboratories.
Patients and caregiver of young children are urged to become part of the solution to improved quality of
care for all girls with Turner Syndrome.
33. Assistive Technologies & Products
Technology
● There are many apps out there for people with disorders to make online
friends. Since majority of those with Turner Syndrome suffer with making an
maintaining relationships
● Word Processors and Speech-to-Text Software Are Useful for Writing Tasks
Products
● There are no known products for patients with Turner’s Syndrome.
Scientists are still working to find a cure and maybe take out this
disease for good.
35. ● Turner Syndrome (TS) is a chromosomal condition that affects development
in females(only).
● Turner Syndrome is caused by a chromosomal mutation, resulting in a
missing X chromosome, monosomy X, in females (XO). In rarer cases a
second X chromosome is present but abnormal (deletion,etc.), while in other
cases some cells may have the second X chromosomes, but other cells do
not (mosaicism).
● Briefly it is a lack of all or a part of a second sex chromosome(X) in some or
all cells.
● Other names include: 45,X syndrome;
Ullirich (Turner Syndrome Europe);
Gonadal Dysgenesis (India)
What is Turner’s Syndrome?
36. Questions About This Disorder
We are concerned for our baby girls condition and how did she get it. Some
questions that we have are:
1. Will my child’s offsprings carry Turner, as well?
2. Did either of my husband, or my genes give her this disorder?
When our first child was born, we didn’t have any problems, and he is a healthy boy
now. Where did this disease come from?
37. Is Turner Syndrome Inherited?
● The genotype of parents, have no relation to whether or not the child will have Turner's
Syndrome
● Most cases of Turner Syndrome are not inherited, rather it occurs when one of the
chromosomes during replication do not split as they should, resulting in one cell having
1 chromosome while the other holds 3. This is called Non-disjunction: the failure of
sister chromatids to separate during meiosis.
● Just like Turner Syndrome is not inherited (in most cases), it’ll not be passed down to
offspring, however they’ll still have that 2% chance of having if a mistake occurs again
during the division of sister chromatids to chromosomes.
● Because inheritance doesn’t have any relation to whether or not a child will have the
condition, a punnett square nor a pedigree can be used to determine
whether an offspring will have this disease, it is completely
unpredictable.
38. Additional Answered Questions
Will my child’s offspring carry Turner, as well?
No, your child’s offspring will not inherit Turner Syndrome from their mother (your
expecting baby girl), because as I mentioned earlier Turners isn’t a inherited
disorder.
Did either of my husband, or my genes give her this disorder?
No, as I mentioned earlier it has no association with inheritance.
39. P A R E N T ‘ S
R E P O R T
My husband, and I had lots of questions and
concerns and so we did tons of research.
40. Parental information
● Estimated Medical costs: If we decide to get many treatments done costs
can go up to $ 200,000 or more. However if we get simple treatment it’ll go as
low as $700 monthly (including regular checkups).
● Will we have to move? We won’t really have to move nearer to areas with
healthcares, hospitals, urgency cares, etc. because her condition isn’t life
threatening, and critical in which she’ll need immediate assistance. However
since she’ll be having multiple health checkups it would be easier on us if we
lived closer.
● Can my daughter have children despite infertility? Yes she
can with the right treatments taken at the right age.
41. ● Will our baby girl be treated differently? How will she be affected? At times
she’ll be the odd one out, she may sometimes be bullied and find it hard to
make and maintain relationships. And as a result may go through extreme
psychological issues such as, depression, low self-esteem, etc. However we
believe if she puts her focus on other things and is not consumed by her
condition she’ll be like any other child. With good medical care, psychological
care, and a supportive family we believe she can be a very happy girl
42. Changes to our Daily Routine
● Everyday, we will have to set time aside to make sure our daughter is:
➔ Taking all her daily doses of medication
➔ Has at least 60 minutes of some form of exercise
➔ A glass of milk (for her daily intake of calcium)
➔ If not daily then at least frequently we’d like to have family discussions involving
everyone in the family to share problems anyone may be facing, funny stories,
anything
We will also have to set aside time for when we will all sit down as a family and bond
together, like watch a movie, play a board game, or a walk in the park. Besides those we
believe, there aren’t any other major accommodations to be made.
We hope that we can work this out as a family, and hopefully help our daughter to live
and enjoy life to the fullest.
43. Impacts on our family
● Parents/Family Expectations
➔ We understand our daughter will need a lot of attention and care, and
acknowledge the fact her elder siblings can get jealous. So we’ll try
discussing with our elder two into understanding the circumstances, we’ll also
try our best to give them attention as well.
➔ We would also like to teach her to have regular interactions with her family,
friends, and teachers.
➔ However if we work together and support each other, we’re sure we can have
a happy content family.
44. Other expectations
● Teacher’s Expectations
➔ Her teachers should take time to try to understand her, and try not to push her
hard, make her feel pressured, left out, or less than other students.
➔ At the same time we would like our daughter to respect her teacher and listen to
her at all times.
46. Treatment Centers
1. Baylor Scott & White Medical Center
● Open 24 hours
● Phone Number: (972) 579-8100
2. Cook Children’s Pediatrics
● 8AM- 5PM
● Phone Number: (817) 571-6644
These are the most common hospitals my patients go to. If you are looking
for any other hospital please click on the link below.
https://turnersyndromefoundation.org/turner-syndrome-across-the-lifespan/speciali
zed-centers/
47. Support
The Turner Syndrome Society of the United States, and other organizations provide
educational materials, resources for families and information about support
groups. Groups for parents provide an opportunity to exchange ideas, develop
coping strategies and locate resources.
Peer groups for girls with Turner syndrome can help reinforce self-esteem and
provide a social network of people who understand how to live with Turner
syndrome.
48. If you are looking for more local groups that help with physical, mental, or
emotional stress caused by Turner's Syndrome click on the link below.
https://www.turnersyndrome.org/local-groups