Turner’s Syndrome – Pictures, Symptoms, Causes, Treatment, Life Expectancy


What is Turner’s Syndrome?

Turner’s Syndrome or gonadal dysgenesis is a condition that affects females in which one of the sex chromosomes (X chromosome) is completely missing or has abnormalities. A normal female has 46 chromosomes, including 2 X-chromosomes (44XX). With Turner’s syndrome, the female patient only has one X chromosome or has an abnormality in one of the X-chromosome. Some conditions only have a missing X chromosome in some cells, but not others. This condition is called Turner’s mosaicism.

Turner’s syndrome occurs in 0.05% of the female population. It is a genetic disorder that usually affects the sexual development of females. Several physical abnormalities are noted with a distinct short stature, webbed neck and low-set ears. Since the X chromosome is affected, there is a gonadal dysfunction or the ovaries do not work, leading to infertility and absence of menses (amenorrhea). Aside from sexual dysfunction, individuals with Turner’s syndrome have cognitive limitations specifically in memory, mathematical and spatial skills.

Since the gonads develop in the same germ layer as other organs, Turner’s syndrome is often accompanied by heart and kidney problems.

History of Turner’s Syndrome

It is named after an endocrinologist who first described it, Henry H. Turner. Turner’s syndrome is commonly called Bonnevie-Ullrich-Turner syndrome or Ullrich-Turner syndrome in Europe because early doctors there also described the disease. The first case of Turner’s syndrome was a 45X karyotype in a 14 year old girl from London.

Causes of Turner’s Syndrome

Predisposing factors for Turner’s syndrome remain unknown. Genetics play a part in the occurrence of the condition. About two-thirds of the cases have inactivated X chromosome, which is paternal in origin. The main cause for Turner’s syndrome is still being studied, but some theories support its development. One theory is that during conception a part of the sex chromosomes is not passed on to the female fetus. These females do not have Barr bodies (part of the X chromosome) which leads to the absence of one X chromosome or incomplete X chromosome.

Turner’s Syndrome Symptoms

The defect in the sex chromosome often leads to the following manifestations:

  • Webbed neck
  • Short stature
  • Broad chest
  • Shield shaped chest
  • Lymphedema or swelling of the feet and hands
  • Wide-spaced nipples
  • Low-set ears
  • Low hairline
  • Sparse pubic hair
  • Rudimentary gonads (ovaries) which eventually become fibrosed
  • Dryness of the vagina
  • Infertility
  • Amenorrhea or absence of menses
  • Short metacarpals
  • Overweight
  • Small, soft fingernails
  • Micrognathia or small lower jaw
  • Narrow maxilla
  • Turned-in elbows
  • Dry eyes
  • Drooping eyelids
  • Pigmented moles
  • Poor breast development
  • Coarctation of the aorta
  • Structural defects of the aortic valve
  • Misshapen kidneys (horse-shoe)
  • Smaller hips or have the same size as the waist (poor hip-to-waist- ratio)
  • Poor concentration and memory
  • Poor attention
  • Hyperactivity
  • Learning disabilities
  • Dyscalculia or difficulty in math
  • Poor spatial skills
  • Poor social skills

The occurrence of symptoms is usually different for each female patient. Until now, no two females with Turner’s syndrome have shared the same set of symptoms.

Turner’s Syndrome Diagnosis

Turner’s syndrome can be diagnosed at all stages of life even during fetal development. Turner’s syndrome is usually diagnosed before birth through amniocentesis. Chromosome analysis is done with the specimen. The condition may also be seen during ultrasounds where an abnormality in the kidneys and heart is detected. When Turner’s Syndrome is detected before delivery, parents undergo genetic counseling to help them cope with the condition.

To determine the exact genetic problem in an individual female, karyotyping is done. Karyotyping is the analysis of the chromosomes and chromosomal compositions of an individual. A blood examination is also carried out to determine levels of follicle stimulating hormone and luteinizing hormone. These hormones are usually affected by the change in estrogen levels.

The physician also does a physical examination to determine any underdevelopment or abnormality in the body parts such as the breasts, hands, fingers and feet.

Other diagnostic tests are also done to determine any complications and underlying conditions of the heart, chest, kidneys and reproductive organs. Echocardiogram, MRI, pelvic exam and ultrasound of the ovaries and kidneys are done to determine these conditions.

Treatment of Turner’s Syndrome

The genetic abnormality in Turner’s Syndrome has no cure. However, certain supportive treatments can be done to correct the symptoms. These include:

Growth Hormone Therapy

Growth hormone enhances bone growth to let girls with Turner’s Syndrome reach an average height and treatment may start as early as in the toddler years. It is approved by the Food and Drug Administration for the management of Turner’s Syndrome. When this is not given, females only reach an average height of less than five feet.

Estrogen Replacement Therapy

Sex hormones are usually given to improve sexual development. Estrogen therapy is usually administered starting at 12 years old. It improves breast development, pubic hair growth; and increases the width of the pelvis and the development of other secondary sex characteristics. Estrogen is also essential for bone and tissue health. Individuals with Turner’s Syndrome who do not receive estrogen therapy are likely to develop osteoporosis. Estrogen is also important for uterine maturity when a woman wants to bear a child.

Assisted Reproduction Techniques

Physicians also assist the woman with certain reproduction techniques to help her become pregnant such as the use of donor eggs. These turn into embryos which are then carried by the woman with Turner’s syndrome.
The treatment for Turner’s Syndrome relies on improving the growth and sexual functioning of the woman. Since the condition is associated with chromosomal aberrations, there is no current cure to completely eradicate the condition.

Turner’s Syndrome Prognosis

Turner’s syndrome is a lifelong condition. The patient can usually have a normal life if treatments are carefully monitored. Symptoms of the condition are not harmful for the patient, but certain underlying conditions may contribute to mortality in some cases.

Turner’s Syndrome Life Expectancy

Females with Turner’s Syndrome usually reach 50 years of age. The reduction in life expectancy is up to 13 years. However, when complications are not detected, patients often die at an early age due to kidney and heart problems. A fetus having the condition in the uterus often ends up as still born or spontaneously aborted during the early stage of conception because of the congenital anomalies.



Genetics

Humans have a total of 46 chromosomes including two sex chromosomes. These chromosomes contain the genes and DNA responsible for building the body. The sex chromosomes indicate the sex of the person. Females have two X chromosomes (XX) while males have one X and one Y chromosome (XY).

In Turner’s Syndrome, there is a defect in one of the X chromosome of the female; either it is absent or has defects. The most common karyotype of individuals with Turner’s Syndrome is 45XO or a non disjunction of the chromosomes. In these cases, there are 44 chromosomes with only one sex chromosome (44 plus one is 45 – written as 45XO, the O signifies the absent X chromosome.)

During conception, the sex chromosomes are not transferred properly leading to the condition. Genetic counseling should be done with parents with an offspring with Turner’s Syndrome, although recurrences with following pregnancies are usually low.

Complications of Turner’s Syndrome

Complications of Turner’s syndrome are commonly associated with the organs that develop in the same germ layer as the reproductive organs such as:

1. Heart defects – Cardiovascular complications or congenital heart defects are the number one reason for mortality in patients with Turner’s Syndrome. Reduced life expectancy is associated with these complications. Up to 45% of patients with Turner’s Syndrome have congenital heart problems.

Obstructive lesions in the left side of the heart are commonly seen which significantly reduce the blood flow in the heart. The most common congenital heart anomalies include post-ductal coarctation of the aorta, bicuspid aortic valve, partial anomalous venous drainage, aortic valve stenosis, aortic dissection, dilatation and rupture and hypoplastic left heart syndrome.

2. Diabetes – Diabetes is a potential result of obesity in Turner’s syndrome. Type 1 diabetes can also occur during childhood as a result of affectation of the cells in the pancreas that produce insulin. Diabetes can be prevented through weight reduction.

3. Kidney problems – Kidney abnormalities include abnormal kidney tubules, a horse-shoe kidney, or a poor renal blood flow. About 30% of women with Turner’s Syndrome have kidney abnormalities. Kidney problems are often corrected through surgery although the kidney problem does not often result in serious conditions.

4. Scoliosis and Bone Fractures – The normal skeletal development is affected due to inadequate synthesis of estrogen. This results in osteoporosis and eventually scoliosis because of the exacerbation of the curvature of the spine. Bone fractures may also develop as a result of osteoporosis.

5. Thyroid problems – Individuals with Turner’s Syndrome may also develop hypothyroidism such as Hashimoto’s thyroiditis.

6. Infertility – This results from the underdevelopment and fibrosis of the ovaries bilaterally. It is often corrected by supportive treatments such as egg donation from normal women.

7. Cognitive Problems – Individuals do not experience mental retardation, but only learning disabilities or non-verbal learning disorders. These include poor spatial skills, memory and math skills. These difficulties often lead to problems in everyday functions although most adults with Turner’s Syndrome may lead productive lives.

A special type of Turner’s syndrome, which is Ring-X Turner’s Syndrome, may lead to mental retardation. This type accounts for up to 4% of all cases of Turner’s Syndrome.

Other complications include obesity, high blood pressure, cataracts and arthritis.

Prevention

There is no known way to prevent Turner’s Syndrome because the exact cause and risk factors are still unknown.

Pictures

one chromosome missing in Turner’s syndrome

23rd chromosome missing in Turners syndrome

characterstics of turners syndrome

Picture 2 – Symptoms and signs of Turners syndrome

Image source – mun.ca

Turner’s syndrome pictures

Picture 3 – broad shield chest in Turner’s syndrome

Image source – wikia.com

puffy feet in turners syndrome

Picture 4 – Puffy Feet in Turners syndrome

Image Source – wikimedia.org

Turner’s syndrome baby

Turner’s syndrome baby Photo

Image Source – Turnersyndromepictures.com

hand in Turner’s syndrome

Updated by Andrea at 11.50pm on 23/8/12.



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27 Responses to “Turner’s Syndrome – Pictures, Symptoms, Causes, Treatment, Life Expectancy”

  • Sandra says:

    I have a variant of Turner’s syndrome. I was on estrogen replacement until a couple of years ago. I am going on 52 and in good health. I recently had a hysterectomy. I never had children.
    I have been hurt emotionally because of some people’s ignorance.
    I had I guess you could say a bf when I was l7. We were friends, and I started wanted more, and for a while I think he did too, but I think he was afraid of our families and people might say. We experimented with sex (not intercourse) Also, my family was very protective and he was a couple of years younger than me. We stopped seeing each other as often because his family moved into town. Anyway, he met someone else and started dating her, and she got pregnant when he was l7. I was married and my ex-husband couldn’t deal with our infertility. As a result he became emotionally abusive, and again his family particularly my ex’s dad added fuel to the fire by making little comments that I wasn’t capable of doing and learning certain things. He met another woman and got her pregnant. We divorced in l989. I’ve had a common-law spouse since 1991, and he was diagnosed with c.o.p.d approxiamately 3 years ago.

  • Clare says:

    The life expectancy given is inaccurate on 2 accounts to say turner girls live into there 50s is wrong it is significantly higher and in most cases normal life expectancy, and if this is the case reduction would be far more than 13 years!! Get your facts straight!!!!!! This article is wrong and will promote fear in women with TS .

  • myka Hambrick says:

    I am a 23 yr old wife of five yrs…my husband and I lost our daughter in june 2011 to turner syndrome…difficult thing to experience…

    • Jen says:

      I can only imagine. I’m so very sorry for your loss. I was born with a different birth defect. Mine is typically easier to cover up, but *nobody* – husband included – knows how much I struggle. I still would never change a thing. There have been blessings among those struggles. Just realize that your daughter very much appreciated everything you did for her. God bless you, Myka.

  • Maha Elazar says:

    I ;personally will support my new student with TS. she is amazing and clever.

  • Krystal Pena says:

    Hi, I am 20yrs old and 15 weeks pregnant and just found out my unborn child has turners syndrome..im so scared but i have realized it could be worse. Idk what to do or expect :(

    • Mary B. McKeel says:

      Hello. I am 50 years old, I live in Charlotte, North Carolina, and I have Turner Syndrome.

      I got my diagnosis when I was 14. It was the 70s, so there was no support back then.

      Every girl or woman with Turner Syndrome is different. I am what they call a Mosaic; some of my cells are normal, some are not. I did not have any of the heart problems that can occur.

      Where do you live? Do you have a place to get genetic counseling? When I got diagnosed, it was by an endocrinologist. Have you found the Turner Syndrome Society? They do a lot of work with children and families.

      I have had some hard times, it’s understandable that you are scared. But I have had a fairly normal life. I finished school. In general, Turner Syndrome women are big readers, though we have trouble with math. Your daughter may be imaginative and creative (I try to write poetry and fiction). If you and your daughter get all the love and support you can find, you will do fine.
      Best, Mary B.

    • Anonymous says:

      My four year granddaughter has Turner syndrome and she has most of the symptoms. But I have to tell you she is the light of my life. She is smart funny has a sharp wit and everybody that meets her can’t believe she’s four cause she looks like two. When she started walking at a year people did double takes because she looked like she was 5 months! Funnier even when she spoke! Out of my 8 grandchildren she is the toughest smartest enjoyable granddaughter! Do not be afraid. They exhibit a resiliency that is rarely seen. I adore this little one. As fat as stature she looks like a mini gymnast and plays like one too! You r blessed!

    • Stephanie says:

      I have a little sister with Turners. She graduated from the University of Georgia with a marketing dergree. She is the best thing that ever happened to me. My little brother was born just a year and a half after her without any genetic anomolies. They are both the coolest two people I know. My Mum always made sure she never treated my sister differently and she used numerous flash cards to teach us everything she could. My sister is the only person in our family with a college degree. She is alomst 31 now and a very deep loving person. If you have any worries or questions, please email me.

    • Joan Strella says:

      Get in touch with the Turner’s Syndrome Society of America. Meet some adult ladies with Turner’s Syndrome.

    • Leigh-ann says:

      I understand your anxieties…when we dream of having a baby, we do not dream of them being different in any way. But many are, and what others need to know is that is o.k….so it won’t be exactly what you thought it would be like….it could be better! TS children (and adults) are generally well-adjusted and possess a happy disposition. many lead sucessful, happy and productive lives. My best friend of 40 years has TS and she is the most wonderful, beautiful person I know. I couldn’t imagine life with out her to learn on, have fun with, and talk too. She is intellegent and witty and oh! so cute! She has many good friends and teaches special education, touching the lives of many with her loving ways. She is amazing, and in my opinion, perfect. TS persons are not so different, all of us have strengths and weaknesses….with your daughter having TS, you’ll just know more about what those may be for her. Do not be afraid, learn all you can learn about it so that you’ll know what to expect more, and just be prepared to fall in love when you see her…she will be perfectly imperfect, as we all are….she will bless many lives if you can focus on her strengths and not her weaknesses…she will learn to do the same. I would tell any mom that…with any child. p.s. do not worry about the 50 yr thing…my bf is 64 this year and we are celebrating by going to NYC to PARTY! she is healthier than I am and runs rings around me!She is the life of the party and always the light in the room. You are blessed with this child…she will be wonderful. God bless you and your beautiful child!

  • Mary B. McKeel says:

    It’s Mary again. If you have an OB/GYN, talk to him or her. I hear there is a lot of support that kicks in when there is a diagnosis of Turner Syndrome.

    Some women with Turner have problems with their heart function. I do not. I’m lucky that way. Like I said, every girl and woman with Turner Syndrome is different.
    Best, Mary B.

    • Nicole Schmeiser says:

      I am 26 and I have Turner Syndrome. What this site is saying about heart defects isn’t all accurate. I have a bicuspid aortic valve, but no narrowing of the aortic arch. Even the bicuspid valve hasn’t caused me any major problems. Although, I still have an echocardiogram every 2 or 3 years just to make sure everything looks ok.

  • Mario Cull says:

    Baby shoes are in great demand, now more than ever. From styles and colors to shapes and design, just about everything is available in the new, booming baby footwear market. It is important however, to choose the shoes that best suit your baby to ensure that your bundle of joy experiences no discomfort or pain at any point of time.*

  • Ginny knott says:

    I am 40 years old and have turners. Diagnosed at birth.. for your site to say I only have 10 more years left is stupid and disgraceful.. Read and get your facts straight…girls younger than me read this

  • Nicole Schmeiser says:

    Is it possible for women with turners to have a lower libido since their ovaries aren’t functioing?

  • Beauty Therapy says:

    I feel a little beauty therapy made my daughter (who has TS) and I feel much better in about two seconds. We went and got our hair and nails done. Now every month we leave the boys at home and go get beautiful which makes everyone at home a little more relaxed. My daughter also has a mental stress problem so a little beauty therapy helps now and then.

  • Pamela says:

    My daughter is 4 months and doctor just told her that her baby may have ts. Can you explain to us about the testing she is about to go thru

  • megan says:

    hi everyone my name is megan I have a lil girl with ts her name Is zoey she will be 2 in july… she is very out going she loves to play with kids :) my ? is does ts effect your walking ? she will be 2 and doeent wanna walk yet ? she will walk if I walk with her but she doent wanna go by her self ? so her therapist just got her a gate trainer to use to see if that could help her out… but I was just woundering y she doesn’t wanna go maybe she isent ready or does it come from ts… any help from you would be great thanks :)

  • Claudine P says:

    Hi, I have TS and feel really lucky. I have had a normal life and really enjoy my family. For me, I think it is the infertility that is an issue. I had perfect health until I contracted Lyme disease, and even with that, I continue to lead a normal life. No, women with TS are not as tall as others, I just Grab a step stool to grab the high stuff.

  • Jaden's Mom says:

    Our daughter was diagnosed at 5 years old. Her only symptom is short stature. She was talking by walking by a year,, and is very smart! I remember reading a site when we first found out and the advice was ‘don’t be scared of growth hormone!’ I needed to read that and now we are almost done with the shots, she’s a very healthy and happy 14 year old, and I completely agree with that! Don’t be scared of growth hormone! It has made the world of difference in our girl’s life. She loves math too! Everyone is different. i pray for all the TS miracles!

    • BJ says:

      I am very interested in emailing Jaden’s Mom. Our 11 year old granddaughter is being tested for Turner’s and I’m pretty sure she will test positive. I would like to know everything you care to tell me about growth hormone shots.

  • Hashmi Dawakhana says:

    Excellent write-up. I absolutely love this site. Continue the good work!

  • KEEFELAKAE says:

    My child was born on 05/12/2007 and was dignosed with turner syndrome and when should she start growth hormone enhances bone for growth

  • Anonymous says:

    really


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