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Turner Syndrome

Stella Lee

Turner Syndrome is a chromosomal mutation, This causes females of all ages to be smaller than they should be, and creates difficulties in doing normal everyday tasks that should be simple.

What is Turner Syndrome?

Doctor's Report

Turner syndrome is not a deathly disease, and there are many girls that manage to live a happy and fulfilling life with it. Also, the national institutes of health are sponsoring a study for Turner Syndrome.

symptoms

Symptoms for Turner Syndrome varies upon ages. Common symptoms, like size of the female is able to be seen no matter what age the child is. Some symptoms like fertility are unable to be fixed, and is just something these females adapt to live with. In some cases, heart defects are seen, but this is quite rare.

before birth

  • Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
  • Heart abnormalities
  • Abnormal kidneys
  • Wide or weblike neck
  • Low-set ears
  • Broad chest with widely spaced nipples
  • High, narrow roof of the mouth (palate)
  • Arms that turn outward at the elbows
  • Fingernails and toenails that are narrow and turned upward
  • 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

during birth / infancy

  • 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
  • Failure to begin sexual changes expected during puberty
  • Sexual development that "stalls" during teenage years
  • Early end to menstrual cycles not due to pregnancy
  • For most females with Turner syndrome, inability to conceive a child without fertility treatment

childhood / teen years / adulthood

There are two main treatment options for Turner syndrome, although it is not curable, there are many options for females with this can live a normal and healthy life. Cardiac surgery may be necessary to correct specific heart defects. Reproductive technologies can be used to help a woman with turner’s get pregnant. No specific products of technologies are needed to assist an individual with Turner Syndrome

  • growth hormone : daily injection which helps to improve height and bone growth
  • estrogen therapy : helps breast development, bone mineralization, uterus size, and height (if used with growth hormones) (started between ages 11 and 12 and continued through menopause)

treatment

how many people get this ?

how common is it ?

who is most likely to get it ?

around 1,000 females are born with this every year

1 in 500 females get it

only females can get this

statistics

Turner’s Syndrome is an automsomal dominant genetic disorder caused by a change in the sex chromosomes before birth. This affects only females, when one of their x chromosomes is missing or not fully there. This is due to an error in either the mother’s egg or the father’s sperm.

Genetic Counselor's Report

Turner syndrome is a genetic disorder caused by a change on the x chromosome.

Turner syndrome is a mutation on the chromosome, therefore it cannot be inherited and is a 0% chance that it is passed down.

inheritance

This pedigree shows the child with Turner syndrome, to be in the third generation. There is only one affected family member, because this pedigree is showing how it is a random mutation, and does not correlate to whether or not anyone else in the family has had it before.

diagrams

This punnett square shows how it does not matter if the parents have the mutation, and that any child could get it regardless of the parent's alleles.

Dear Diary,

I just had my daughter about a week ago, her name is Georgina. and we have just come to find out that she has Turner syndrome. I'm not sure how I'm supposed to react or help her, but I am trying my best. I have done quite a bit of researching over the last few days and this is what I have come up with.

Parent's Report

GEORGINA LEE

Dear Diary,

For a new mom, this is a lot to handle. Mothering is hard enough on it's own, but then when you add in a child with disabilities it's even harder. The good thing is that my daughter will have relatively normal intelligence, except for that she may struggle in math. She may struggle with spatial skills, like map reading. She does have higher chances at having many health problems (such as high blood pressure), some may include hearing problems, body image and self esteem problems, and ADHD. Sadly these females are usually infertile, meaning they cannot have children.

Thankfully our family does not have to make too many alteration in our life to help our daughter, most of all thankfully we do not have to move anywhere to get her help.

changes in daily routine / accommodations

Turner syndrome medical costs can cost from anywhere from $10,000 - $60,000 a year in the united states.

costs

Dear Diary,

My husband and I have been struggling quite a bit since our daughter has been born. It is very difficult to bring a child into this world knowing they are not going to live the life they could have. Obviously she can still live her life but maybe not as much as we thought.

emotional impact

child treatment

Dear Diary,

It's going to be very difficult living with my daughter and coping with all of her accommodation, but I believe that we can do it. I am going to try my best to not treat her differently, but that does not mean others will not. I'm worried kids at school might say mean things and ask her why she's so short, but she just cannot help it.

Community Resources

Dear Diary,

As I've been doing more and more research about Turner syndrome, I'm discovering so many amazing resources my family and I can use.

local treatment centers / support groups / financial support

There are many places close to me where I can find treatment centers, support groups and financial support for my daughter. Other than close in person locations, there are hundreds of online websites where one can get help when it's needed

They're are not very many support groups in San Diego, CA for Turner syndrome, although there are many all over the state. There are also many online options.

First there's the Turner Syndrome Society of the United States, which has locations all across the country. They have meet ups all over northern and central california.

This is their website : https://www.turnersyndrome.org/support-groups

This is who you can email to contact them : deborah@turnersyndrome.org

support groups

There is a treatment center for kids, in San Diego, CA, where they can treat Turner syndrome, and it is located south of Kearny Mesa. This hospital is called the Rady Children's Specialists and they not only provide treatment for Turner syndrome, but they also provide support groups for the girls.

Their website is : https://www.rchsd.org/programs-services/endocrinology-diabetes/services/turner-syndrome-clinic/

And you can also call them at : 858-966-4032

treatment centers

financial support

For financial support, parents can turn to the Turner Syndrome Foundation. They have many resources and are getting donations to help these girls and families in need.

This is their website : https://turnersyndromefoundation.org/living/resources/reimburse-assist/

The Turner Syndrome Society of the United States is a national foundation that any and all patients can seek help and guidance from. They have many events online so that kids with Turner can talk to other kids about how they're going through this, and even just to talk about normal things that all kids talk about.

national foundations

Their website : https://www.turnersyndrome.org/

Their email : info@turnersyndrome.org

Their phone number : 1-800-365-9944

There are not any specific schools that girls with Turner syndrome need to attend, this is because they typically do not have any trouble learning like other children (except for in math).

special schools / programs

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