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Chromosomes carrying the gene Turner Syndrome

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Chromosomes carrying the gene Turner Syndrome

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Pictures of the what Turners Syndrome do to women

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Pictures of the what Turners Syndrome do to women

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Monosomy X, also known as Turner's Syndrome only affect women, and is the result of one of the X chromosomes missing or partially absent.

https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

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Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening - a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother - or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:

Large fluid collection on the back of the neck or other abnormal fluid collections (edema)

Heart abnormalities

Abnormal kidneys

At birth or during infancy

Signs of Turner syndrome at birth or during infancy may include:

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

In childhood, teens and adulthood

The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:

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

Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation.

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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.

The genetic changes of Turner syndrome may be one of the following:

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.

Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.

X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism).

Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effects of the missing or changed chromosome

The missing or changed X chromosome of Turner syndrome causes problems during fetal development and other developmental problems after birth - for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from these chromosomal issues vary greatly.

The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.

Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.

Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur 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.

High blood pressure. Turner syndrome can increase the 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. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.

Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.

Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with 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). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).

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 challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).

Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, 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 heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

1. Shah S, et al. Care of the adult woman with Turner syndrome. Climacteric. 2018; doi:10.1080/13697137.2018.1476969.

2. Turner syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome. Accessed Oct. 5, 2021.

3. Learning about Turner syndrome. National Human Genome Research Institute. https://www.genome.gov/Genetic-Disorders/Turner-Syndrome. Accessed Oct. 5, 2021.

4. Turner syndrome. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome. Accessed Oct. 5, 2021.

5. Turner syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/factsheets/turner. Accessed Oct. 5, 2021.

6. Gravholt CH, et al. Turner syndrome: Mechanisms and management. Nature Reviews Endocrinology. 2019; doi:10.1038/s41574-019-0224-4.

7. Hutaff-Lee C, et al. Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome. American Journal of Medical Genetics Part C; Seminars in Medical Genetics. 2019; doi:10.1002/ajmg.c.31687.

8. Los E, et al. Growth and growth hormone in Turner syndrome: Looking back, looking ahead. American Journal of Medical Genetics Part C; Seminars in Medical Genetics 2019; doi:10.1002/ajmg.c.31680.

9. Backeljauw P, et al. Sex hormone replacement therapy for individuals with Turner syndrome. American Journal of Medical Genetics Part C; Seminars in Medical Genetics. 2019; doi:10.1002/ajmg.c.31685.

10. Turner Syndrome Society of the United States. https://www.turnersyndrome.org/. Accessed Oct. 5, 2021.

11. Mohamed S, et al. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. Cochrane Database of Systematic Reviews. 2019; doi:10.1002/14651858.CD010736.pub2.

12. Redel JM, et al. Turner syndrome: Diagnostic and management considerations for perinatal clinicians. Clinics in Perinatology. 2018; doi:10.1016/j.clp.2017.11.003.

13. Acosta AM, et al. Orthopaedic manifestations in Turner syndrome. Journal of the American Academy of Orthopedic Surgeons. 2019; doi:10.5435/JAAOS-D-17-00796.

14. Wick MJ (expert opinion). Mayo Clinic. Dec. 19, 2021.

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A genetic disorder that affects females-Turner syndrome - Symptoms & causes - Mayo Clinic

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Turner syndrome affects only females as the result of a missing or partially missing X chromosome, causing a variety of medical and developmental problems.

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Turners syndrome is not necessarily inherited, except for rare cases. If it was inherited that would mean that both parents would have passed down a mutation, but in Turners syndrome the chromosome changes randomly before birth.

https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome#:~:text=Is%20Turner%20syndrome%20inherited%3F,change%20happens%20randomly%20before%20birth.

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Overview

What is Turner syndrome (TS)?

Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women. More specifically, it's a problem with one of the two X chromosomes -- the thread-like structures inside cells that are made of DNA. We get our DNA from our parents and it is the DNA that contains the specific instructions that make each living creature unique!

Turner syndrome is a congenital condition, meaning it's something a person is born with. Each of us is born with two chromosomes. If you're female, you were born with two X chromosomes. If you're a male, you are born with one X and one Y chromosome. Turner Syndrome occurs when one of the X chromosomes is missing, either partially or completely.

Turner syndrome often causes short stature, typically noticeable by age 5. It usually doesn't affect intelligence but can lead to developmental delays especially with calculations and memory. Heart problems are common, too. While TS can somewhat shorten life expectancy, screening for and treating known related conditions helps protect health.

Is Turner syndrome inherited?

Turner syndrome is a genetic disorder, but it's usually not inherited, except in rare cases. An inherited genetic condition means that a parent (or both parents) passed down a mutated, or changed, gene. In Turner syndrome, the chromosome change happens randomly before birth.

What are the types of Turner syndrome?

The type of Turner syndrome (TS) a person has depends on the problem with the X chromosome:

Monosomy X: Each cell has only one X chromosome instead of two. About 45% of people with TS have this type. It comes from the mother's egg or the father's sperm randomly forming without an X chromosome. After fertilization, the baby's cells also contain this defect.

Mosaic Turner syndrome: Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases. Some of the baby's cells have a pair of X chromosomes, while other cells only have one. It happens randomly during cell division early in pregnancy.

Inherited Turner syndrome: In rare cases, babies may have inherited TS, meaning their parent (or parents) were born with it and passed it on. This type usually happens because of a missing part of the X chromosome.

How common is Turner syndrome?

Worldwide, about 1 in every 2,500 female babies is born with Turner syndrome. It's the most common sex chromosomal abnormality found in women.

Symptoms and Causes

What causes Turner syndrome?

Turner syndrome happens when one of a female baby's two X chromosomes is missing or incomplete. Researchers don't yet understand why this happens.

What are the symptoms of Turner syndrome?

The main symptom of Turner syndrome is short stature. Almost all females with TS:

Grow more slowly than their peers during childhood and adolescence.

Have delayed puberty and lack of growth spurts, resulting in an average adult height of 4 feet, 8 inches. (If diagnosed early, growth hormone can help the person reach near-normal height).

Another symptom is not experiencing typical sexual development. Most females with TS:

Don't experience breast development.

May not have menstrual periods.

Have small ovaries that may only function for a few years or not at all.

Typically don't go through puberty, unless they get hormone therapy in late childhood and early teens.

Don't make enough sex hormones.

Besides short stature, females with Turner syndrome often have certain physical traits:

Broad chest.

Cubitus valgus, where the arms point out slightly at the elbows.

Dental problems.

Eye problems, such as a lazy eye or drooping eyelids.

Scoliosis, when the spine curves sideways.

Low hairline at the back of the neck.

Many skin moles.

Missing knuckle in a particular finger or toe, making the digit shorter.

Narrow fingernails and toenails.

Small lower jaw.

Swelling of the hands and feet.

Unusually short, wide neck or webbed neck (extra skin folds).

What other medical problems might people with Turner syndrome have?
Cardiovascular problems
People with Turner syndrome (TS) may have heart and blood vessel problems, some of which can be life-threatening. Up to 50% of people with TS have a problem with the structure of their hearts. Cardiovascular problems can include:
Bone problems
These are also common with TS. People with Turner syndrome should exercise and get enough calcium and vitamin D for healthy bones. Bone problems include:

Increased risk for fractures and osteoporosis (weak bones), particularly in women who haven't received estrogen treatment.

Scoliosis, in about 20% of people.

Other medical conditions
People with Turner syndrome may also have:

Autoimmune disorders: People with TS may develop hypothyroidism (not enough thyroid hormone). They may also develop celiac disease (digestive disorder) and inflammatory bowel disease (digestive tract irritation).

Hearing and ear problems: An incorrectly formed ear and frequent middle ear infections are common. Sensorineural hearing loss develops in more than 50% of adults.

Kidney defects: Structural problems in the kidney-urinary system happen in about 30% to 40% of people with TS. Problems with urine flow can lead to kidney infections.

Metabolic syndrome: People with TS are at high risk for metabolic syndrome, a group of problems that occur together. It includes central obesity (more excess weight around the waist area), insulin resistance (pre-diabetes), high blood pressure, high cholesterol, high triglycerides and Type 2 diabetes.

Mental health challenges: They may have low self-esteem and anxiety or depression. They may feel this way because of their physical concerns, health problems and infertility.

Vision problems: Both farsightedness and nearsightedness can occur along with red-green color blindness, but nearsightedness is the most common eye problem.

Do people with Turner syndrome have developmental delays?

People with Turner syndrome typically have normal intelligence. But they may have problems with visual motor and visual spatial skills. They can have difficulty seeing how objects relate to each other in space. For example, driving may be difficult.

People with Turner syndrome may also have trouble with:

Clumsiness.

Executive functions, including problems with managing and planning, memory, attention, and cognitive flexibility -- or changing the way they think about something.

Nonverbal problem solving, like math.

Understanding social cues, like facial expressions.

Diagnosis and Tests

How is Turner syndrome (TS) diagnosed?

Usually, parents notice symptoms of Turner syndrome. Sometimes they do so right away and sometimes it happens during early childhood. For example, they may spot:

Swelling in hands or feet and skin webbing on the neck (may show up soon after birth).

Short stature or stop in growth.

Lack of breast development and menstrual periods.

A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing.

A complete heart evaluation is also part of diagnosis. That's because many people with TS have heart problems.

When is Turner syndrome diagnosed?

Healthcare providers may diagnose Turner syndrome at any stage of a child's development. Sometimes, the condition gets spotted before birth:

Maternal serum screening is a blood draw from the mother. It checks for signs showing an increased chance of a chromosomal problem with the baby. This screening is more common in women who are pregnant at an older age.

Amniocentesis and chorionic villous sampling check the amniotic fluid or tissue from the placenta. Healthcare providers perform a karyotype analysis on the fluid or tissue. The results could show that the baby has Turner syndrome.

Ultrasound during pregnancy may show that the baby has some features of TS. The healthcare provider may see heart problems or fluid around the neck.

Other times, children receive a diagnosis soon after birth or during early childhood because of their symptoms. But some people aren't diagnosed with Turner syndrome until they reach adulthood. These women may go through puberty and get their periods. But they often have early ovarian failure (early menopause).

Management and Treatment

Who should be on my child's care team for Turner syndrome?

Treatment for Turner syndrome depends on each child's specific symptoms and development. A coordinated care team can provide the most comprehensive, effective care. The team will look at the whole picture and tailor a plan that works for your child.

Usually, children with Turner syndrome work with their pediatricians. They also receive evaluation and monitoring from pediatric endocrinologists. These hormone specialists can provide recommendations on how to treat hormone deficiencies.

Other pediatric specialists may include:

Cardiologist.

Ophthalmologist.

Otolaryngologist (ENT).

Psychologist.

Speech pathologist.

Surgeon.

Parents can help the care team by keeping growth charts and tracking other symptoms. It's also a good idea for families to get genetic counseling.

How is Turner syndrome treated?

Besides care for related medical problems, Turner syndrome (TS) treatment often focuses on hormones. Treatments may include:

Human growth hormone: Injections of human growth hormone can increase height. If treatment starts early enough, these shots can increase the final height of people with TS by several inches.

Estrogen therapy: Often, people with TS need estrogen, a female hormone. This type of hormone replacement therapy can help girls develop breasts and begin menstruation. It can also help their uterus grow to a typical size. Estrogen replacement improves brain development, heart function, liver function and skeletal health, too.

Cyclic progestins: These hormones are often added at age 11 or 12 if blood tests note deficiency. Progestins will induce cyclic menstrual periods. Treatment is often started with very low dosages and then gradually increased to simulate normal puberty.

Prevention

Can Turner syndrome be prevented?

You can't prevent Turner syndrome. It's a congenital problem. It happens when a random error results in a missing or incomplete X chromosome. Parents can't do anything to stop this error from happening.

Will being pregnant at a later age increase the risk of having a baby with Turner syndrome?

No. The chance of having a baby with Turner syndrome doesn't increase with the age of the mother.

Outlook / Prognosis

What's the outlook for people with Turner syndrome?

The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.

Living With

How can I take care of my child with Turner syndrome?

Early diagnosis is key. Pay attention to your child's growth and milestones. Perhaps you noticed your child doesn't seem to be growing as they should or you see unusual physical symptoms. Talk to your pediatrician.

Certain treatments, such as hormone therapy, are best started early. It's also important to stay on top of other medical concerns, such as heart problems. Your healthcare provider can help you set up a team of specialists to manage your child's care. Your child will likely need regular monitoring and checkups to keep tabs on their her health and any concerns.

Providers also recommend that children with Turner syndrome:

Get screened for learning problems: This should happen as early as 1 or 2 years of age. Teachers and parents can work together to help the child before learning disabilities get more serious. Children with TS can learn executive function skills. Tutoring and occupational therapy can help them function at their best in school and at home.

Work with a mental health professional: A therapist can help with social issues and low self-esteem, anxiety and depression. Cognitive-behavioral therapy, a type of talk therapy, can improve a person's quality of life.

If I have a child with Turner syndrome, am I at higher risk for having another child with TS?

Healthcare providers consider Turner syndrome a sporadic condition, meaning it happens randomly. It's possible to have a second child with TS, but the risk is the same as it is for any pregnancy. You don't have an increased risk for a second child with Turner syndrome if you have an older child with the condition.

Can a woman with Turner syndrome get pregnant?

Women with Turner syndrome are usually infertile, meaning they can't get pregnant. But some women can get pregnant using special fertilization techniques.

What should I ask my healthcare provider?

If your child has Turner syndrome, ask your provider:

What are the treatment options?

What are the risks and benefits of growth hormone injections and other hormone treatments?

When should hormone treatments begin?

What other medical conditions is my child at risk for?

What specialists should be on her care team?

What type of learning or developmental disabilities may occur?

A note from Cleveland Clinic
Turner syndrome is the most common sex chromosomal disorder affecting girls and women. TS happens when the X chromosome is completely or partially missing. It's a sporadic problem, meaning it happens randomly. The problem often occurs in the parent's egg or sperm during fertilization. There's nothing you can do to prevent it. Symptoms of Turner syndrome include short stature and lack of sexual development. Girls often don't develop breasts or get their periods. A combination of therapies can help women with TS live a good quality of life. Treatment may include hormone therapy to help with growth and development. If you have concerns about your child's growth or notice other symptoms, talk to your healthcare provider.

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Turner Syndrome: Causes, Symptoms, Diagnosis & Treatment

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Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women. More specifically, it's a problem with one of the two X chromosomes -- the thread-like structures inside cells that are made of DNA.

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How many women are affected by Turner's Syndrome?

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How many women are affected by Turner's Syndrome?

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about 1 out of 2,500 women are affected by Turner's System worldwide

https://www.nichd.nih.gov/health/topics/turner/conditioninfo/risk#:~:text=Turner%20syndrome%20affects%20about%201%20of%20every%202%2C500%20female%20live%20births%20worldwide.

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Turner syndrome affects about 1 of every 2,500 female live births worldwide.

This disorder affects all races and regions of the world equally. There are no known environmental risks for Turner syndrome. Parents who have had many unaffected children can still have a child with Turner syndrome later on.

Generally, Turner syndrome is not passed on from mother to child. In most cases, women with Turner syndrome are infertile.

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How many people are affected or at risk of Turner syndrome?

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Turner syndrome affects about 1 of every 2,500 female live births worldwide.

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Appearance wise people that are affected by Turner's Syndrome have a short web like neck and are usually shorter than other people with the average height of 4 feet, 8 inches.

https://www.nichd.nih.gov/health/topics/turner/conditioninfo/symptoms#:~:text=Features%20of%20Turner%20syndrome%20may,more%20slowly%20than%20other%20children.

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What are the symptoms of Turner syndrome?

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Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems.

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The treatments for Turner's Syndrome include hormone therapy and estrogen therapy. People with this syndrome may also benefit from growth hormones to try to normalize their height.

https://rarediseases.org/rare-diseases/turner-syndrome/#therapies

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National Organization for Rare Disorders

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Last updated: March 01, 2019
Years published: 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1999, 2004, 2008, 2012, 2019

Acknowledgment

NORD gratefully acknowledges Melissa L. Crenshaw, MD, FACMG, FAAP, Chief, Division of Genetics, Johns Hopkins All Children's Hospital, and Carolyn A. Bondy, MD, Chief, Section on Epigenetics & Development, National Institute of Child Health and Human Development, NIH Clinical Center, for assistance in the preparation of this report.

Disease Overview

Summary

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the second sex chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another. Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty. Most women with Turner syndrome are infertile. A variety of additional symptoms can occur including abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney abnormalities. Intelligence is usually normal, but affected individuals may experience certain learning disabilities. Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. However, in some cases, the disorder may not be diagnosed until well into adulthood, often as an incidental finding. Most cases do not run in families and appear to occur randomly for no apparent reason (sporadically).

Introduction

Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.

Synonyms

45,X syndrome

Bonnevie-Ullrich syndrome

monosomy X

Ullrich-Turner syndrome

Signs & Symptoms

The symptoms and severity of Turner syndrome can be quite variable from one person to another. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.

Almost all females with Turner syndrome exhibit growth failure and attain a final height that is shorter than average (short stature). Children may initially display normal growth, usually for the first few years of life. However, in most cases, the growth rate eventually becomes slower than normal and affected children do not experience normal growth spurts (e.g., no growth spurt during puberty). If untreated, the final height in Turner syndrome is usually less than 5 feet.

Another common feature of Turner syndrome is the failure of the ovaries to develop properly (gonadal dysgenesis). Gonadal dysgenesis can cause the loss of ovarian function early during childhood (premature ovarian failure). Normally, the ovaries produce sex hormones (e.g. estrogen and progesterone) at puberty. These hormones are necessary for the onset of puberty and the proper development of secondary sexual characteristics. Most affected females will require hormone replacement therapy to develop breasts and normal female body contours, undergo proper bone growth, and to begin menstruation. In some cases, affected individuals may begin to undergo breast development and may begin menstruating without therapy (spontaneous pubertal development), but most will stop developing sexually and stop menstruating at some later point during their teen-age years.

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, learning math, nonverbal memory and attention. Affected females may also experience difficulty in certain social situations.

Females with Turner syndrome may develop a variety of distinctive physical features including a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward. A broad chest with widely spaced nipples may occur, which is sometimes referred to as "shield chest." Some individuals may have swollen, puffy hands and feet. These symptoms may occur due to lymphedema, a condition affecting the lymphatic system. The lymphatic system is a circulatory network of vessels, ducts and nodes that filter and distribute certain protein-rich fluid (lymph) and blood cells throughout the body. Lymphedema is characterized by swelling due to fluid accumulation (edema) in the affected parts of the body.

Additional physical findings may include a receding jaw (retrognathia), crossed eyes (strabismus), lazy eyes (amblyopia), drooping eyelids, and a narrow, high-arched roof of the mouth (palate). Some individuals may have skeletal malformations including short bones of the hands, specifically the fourth metacarpals, arms that are turned out at the elbows, and flat feet (pes planus). In approximately 10% of cases, abnormal sideways curvature of the spine (scoliosis) may also occur.

Congenital heart defects may be associated with Turner syndrome, especially in individuals with lymphedema. Such defects may include bicuspid aortic valve, in which the aortic valve has two flaps (leaflets) instead of three. The aorta is the main artery of the heart. The aortic valve regulates blood flow from the heart into the aorta. The flaps open and close to allow the passage of blood. Since there are only two flaps instead of three, the aortic valve does not function properly. A bicuspid aortic valve may or may not cause clinically apparent symptoms. Approximately 5-10% of individuals may have a congenital heart defect known as coarctation of the aorta, a condition characterized by narrowing of the aorta, which causes the heart to pump harder in order to force blood through constricted area. The condition can be mild and go undiagnosed until adulthood or be more serious, which can be associated with a variety of symptoms including pale skin, irritability, heavy sweating and difficulty breathing. If untreated, severe cases can result in insufficient blood flow to the organs of the body or eventually progress to congestive heart failure.

The heart defects associated with some cases of Turner syndrome can increase the risk of severe, life-threatening complications including high blood pressure of the arteries of the lungs (pulmonary hypertension) or aortic dissection, a condition in which there is a tear in the inner wall of the aorta. Blood rushes into the middle layer of the aorta causing the middle and inner layers to separate (dissect). Aortic dissection can potentially cause the outer wall of the aorta to rupture.

Kidney (renal) abnormalities may occur in some cases including horseshoe kidneys or absence (agenesis) of a kidney. Kidney abnormalities increase the risk of urinary tract infections and high blood pressure (hypertension). Liver abnormalities may include a fatty liver. Some affected individuals may have thyroid disease, which can cause decreased activity of the thyroid (hypothyroidism). Thyroid disease usually occurs because the immune system mistakenly attacks thyroid tissue, a condition known as Hashimoto's syndrome (autoimmune thyroiditis). Symptoms can vary from one person to another, but can include fatigue, sluggishness, muscle aches, constipation, a hoarse voice and pale, dry skin.
Some individuals with Turner syndrome may have multiple tiny colored spots (pigmented nevi) on the skin.

Affected females may also be prone to infections of the middle ear (otitis media), especially during infancy and early childhood. Chronic otitis media may be associated with hearing loss due to blockage of sound waves (conductive hearing loss). This hearing loss usually resolves as a child ages and ear infections become less frequent. Hearing abnormalities in young children may affect or delay speech development. In adults, hearing loss due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural hearing loss) may occur and may worsen with age.

Certain individuals with Turner syndrome appear to be at greater risk than the general population for developing certain disorders including diabetes, Celiac disease and osteoporosis. Osteoporosis is characterized by a general loss of bone density that can lead to an increased risk of fractures. Gastrointestinal problems including feeding difficulties and gastroesophageal reflux (GERD) may also occur.

Causes

Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs. We receive one copy from each parent. Chromosomes are numbered from 1 through 22; the 23rd pair normally consists of one X and one Y chromosome for males and two X chromosomes for females. Thus, females with a normal chromosome make-up (karyotype) have 46 chromosomes, including two X chromosomes (46, XX karyotype). Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered.

In females with Turner syndrome, all or a portion of one of the second sex chromosome is missing. The reason that this occurs is unknown and is believed to result from a random event. In some cases, the chromosomal abnormality appears to arise spontaneously (de novo) due to an error in the division of a parent's reproductive cells, either in the father's sperm or the mother's egg. This results in the genetic error being contained in all cells of the body.

In many cases, only a certain percentage of an individual's cell may be affected. This is referred to as mosaicism. Specifically, some cells have the normal 46 chromosomes (one cell line) while other cells do not have the normal 46 chromosomes (second cell line). This second cell line may contain various abnormalities such as partial or complete loss of the X chromosome. In these cases, the loss of genetic material from the X chromosome usually occurs because of spontaneous errors very early during fetal development. Theoretically, individuals with Turner syndrome mosaicism may have fewer developmental problems than other cases because fewer cells are affected. However, this is difficult to predict. Further research is necessary to completely understand the complicated factors involved in the development of the various symptoms associated with Turner syndrome.

In some cases, rarer chromosome abnormalities (other than complete or partial monosomy) can cause Turner syndrome. Such abnormalities include ring chromosome or isochromosome X. Ring chromosomes occur when the ends of a chromosome break off and the long and short arms join together to form a ring. Isochromosomes occur when one arm of a chromosome is missing and is replaced by an identical version of the other arm.

In rare cases, some cells have one copy of the X chromosome, while other cells have one copy of the X chromosome and some Y chromosome material. The amount of Y chromosome material is not enough to cause the development of any male features, but is associated with an increased risk of developing a form of cancer known as gonadoblastoma.

Most symptoms of Turner syndrome occur due to the loss of specific genetic material from one of the X chromosomes. So far, one gene has been conclusively shown to play a role in the development of Turner syndrome. The SHOX gene encodes a protein that helps to regulate other genes in the body. The protein product of the SHOX gene plays a role in the growth and maturation of the skeleton. Researchers believe that the loss of one SHOX gene on the altered X chromosome is the main cause of short stature in females with Turner syndrome.

We are learning more about how the genes on the X chromosome are related to Turner syndrome. The SHOX gene is known to be a major contributor to the development of short stature and other skeletal findings. The UTX gene may be implicated in potential immune issues underlying the repeated episodes of otitis media, which are common. Most recently, the TIMP3 and TIMP1 genes have been identified to be involved in the development of bicuspid aortic valve and aortic abnormalities found in Turner syndrome.

Researchers believe that additional, as-yet-unidentified genes on the X chromosome play a role in the development of other symptoms of Turner syndrome. For example, these genes may encode proteins that are involved in the proper development of the lymphatic and cardiovascular systems. More research is necessary to identify all of the genes that play a role in the development of the clinical features of Turner syndrome.

Affected populations

Turner syndrome affects approximately 1 female in 2,000-2,500 live female births. It is estimated that more than 70,000 women and girls in the United States have Turner syndrome. There are no known racial or ethnic factors that influence frequency of the disorder. In some cases, the disorder is diagnosed before birth or shortly after birth. However, mild cases can remain undiagnosed until later in life and even during adulthood.

Diagnosis

a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Turner syndrome should be suspected in girls with growth deficiency or short stature of unknown cause.

A diagnosis of Turner syndrome is often confirmed by chromosomal analysis, which is usually achieved by determining the karyotype. Karyotyping is a laboratory test that evaluates the number and structure of chromosomes. Karyotyping can be done on almost any type of tissue. In most cases, a blood sample is used to ascertain a person's karyotype.

Turner syndrome is being increasingly diagnosed before birth (prenatally). Screening for Turner syndrome and other chromosome abnormalities can be performed by noninvasive testing on a maternal blood sample. Definitive testing can be done by CVS or amniocentesis. CVS is performed at 10-12 weeks of pregnancy and involves the removal of tissue samples from a portion of the placenta, while amniocentesis is performed at 16-18 weeks gestation and involves taking a small sample of the fluid around the fetus.

In certain cases, certain physical findings associated with Turner syndrome may be seen on a fetal ultrasound. For example, the accumulation of lymph fluid near the neck of a developing fetus can sometimes be seen on a routine fetal ultrasound. If prenatal testing shows a Turner syndrome karyotype but normal ultrasound findings, it can be difficult to predict the extent to which the baby will develop signs of Turner syndrome after birth.

Clinical Testing and Work-Up
Specific imaging techniques such as magnetic resonance imaging (MRI) may be performed to assess affected individuals for the presence of symptoms potentially associated with Turner syndrome such as liver, kidney or heart abnormalities. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. Many individuals with a diagnosis of Turner syndrome undergo a complete cardiac workup to assess the structure and function of the heart. This will include an echocardiogram.

Additional evaluation should be done on thyroid and liver function, bone age, and growth. Hypertension screening should also be performed. Infants diagnosed at birth should receive a full ear, nose and throat examination including an auditory exam. Children, especially those who experience repeated otitis media, as well as adults, require periodic hearing evaluation. Affected individuals should also undergo thyroid function tests because of the potential for thyroid disease.

Standard Therapies

Treatment
The treatment of Turner syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric specialists, surgeons, cardiologists, endocrinologists, speech pathologists, otolaryngologists, ophthalmologists, psychologists, and other healthcare professionals may need to systematically and comprehensively plan an affect child's treatment. Genetic counseling is recommended for affected individuals and their families.

Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as disease severity; the presence or absence of certain symptoms; an individual's age and general health; and/or other elements. Decisions concerning the use of particular drug regimens and/or other treatments should be made by physicians and other members of the health care team in careful consultation with the patient based upon the specifics of his or her case; a thorough discussion of the potential benefits and risks, including possible side effects and long-term effects; patient preference; and other appropriate factors.

There is no cure for Turner syndrome, but therapies have been developed that can improve physical development. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy.

Individuals with Turner syndrome may benefit from growth hormone (GH) therapy, which can help to normalize height. The Food and Drug Administration (FDA) has approved the use of recombinant GH for the treatment of children with Turner syndrome. Recombinant GH is artificially created in a lab. The best age for beginning GH therapy and the optimum duration of therapy in females with Turner syndrome is unknown. Generally, the earlier GH therapy is started, the more beneficial it tends to be for affected individuals. However, there are many individual factors that ultimately determine the effectiveness of GH therapy. Decisions regarding GH therapy in individuals with Turner syndrome are best made after consultation with a pediatric endocrinologist.

Most females with Turner syndrome require sex hormone replacement therapy in order to undergo normal development associated with puberty and to begin their menstrual periods. Estrogen and progesterone replacement therapy will generally promote puberty and the development of secondary sexual characteristics. Hormone replacement therapy is usually begun around 12-14 years of age. This is when most average girls will enter puberty. The timing of initiating puberty also takes into account growth progress on growth hormone replacement. Replacement therapy must be continued in order to maintain these characteristics and most women will require estrogen and progesterone therapy until menopause.

Most individuals with Turner syndrome remain unable to conceive children. In vitro fertilization (IVF) with a donor egg and an implanted pregnancy is sometimes possible. In most cases, these pregnancies carry risks and require close consultation with a patient's healthcare team.

Females with Turner syndrome and Y chromosome material (Y chromosome mosaicism) are at an increased risk of developing a tumor of the gonads. In such cases, it is recommended that the non-functioning gonadal tissue be removed.

Additional treatment is symptomatic and supportive. For example, thyroid hormone replacement therapy may be used to treat individuals with thyroid disease. Correction of hearing loss with hearing aids is another important intervention, which can help with learning and social interaction.

Early intervention is important in ensuring that children with Turner syndrome reach their potential. Special services that may be beneficial to affected children may include special psychosocial support, speech therapy, and other such services.

Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email:[email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Contact for additional information about Turner syndrome:

Melissa L. Crenshaw, MD, FACMG, FAAP
Chief, Division of Genetics
Johns Hopkins All Children's Hospital
601 5th St. S
St. Petersburg, FL 33701
(727) 767-2687

References

JOURNAL ARTICLES
Corbitt H, Morris SA, Gravholt CH, et al. TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. PLos Genet. 2018 Oct 3; 14(10): e1007692. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007692

Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048. https://www.ahajournals.org/doi/10.1161/HCG.0000000000000048

Gravholt CH, Anderson NH, Conway GS et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017; 177(3): G1-G70. http://ncbi.nlm.nih.gov/pubmed/28705803

Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics. 2008;121:e1622-e1627. http://www.ncbi.nlm.nih.gov/pubmed/18504294

McCarthy K, Bondy CA. Turner syndrome in childhood and adolescence. Expert Rev Endocrinol Metab. 2008;3:771-775. http://www.ncbi.nlm.nih.gov/pubmed/19789718

Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. 2005;6:269-280. http://www.ncbi.nlm.nih.gov/pubmed/16311945

Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351:1227-1238. http://www.ncbi.nlm.nih.gov/pubmed/15371580

INTERNET
Danieal MS, Postellon, DC. Turner syndrome. Emedicine Journal, July 20, 2018. Available at: http://emedicine.medscape.com/article/949681-overview
Accessed January 7, 2019.

Mayo Clinic for Medical Education and Research. Turner Syndrome. November 18, 2017. Available at: http://www.mayoclinic.com/health/turner-syndrome/DS01017 Accessed January 7, 2019.

National Institute of Child Health and Human Development. Turner Syndrome, December 1, 2016. Available at: http://turners.nichd.nih.gov/ Accessed January 7, 2019.

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Turner Syndrome - Symptoms, Causes, Treatment | NORD

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Last updated: March 01, 2019 Years published: 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1994, 1995, 1996, 1997, 1999, 2004, 2008, 2012, 2019 Acknowledgment NORD gratefully acknowledges Melissa L. Crenshaw, MD, FACMG, FAAP, Chief, Division of Genetics, Johns Hopkins All Children's Hospital, and Carolyn A.

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Turners Syndrome effects the heart of a woman, it can also make your hands smaller than usually and your feet smaller, it will also  swell up your hands, and feet. And will make girls grow slower. Turners syndrome gives you low set of ears. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

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Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening - a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother - or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:

Large fluid collection on the back of the neck or other abnormal fluid collections (edema)

Heart abnormalities

Abnormal kidneys

At birth or during infancy

Signs of Turner syndrome at birth or during infancy may include:

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

In childhood, teens and adulthood

The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:

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

Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation.

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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.

The genetic changes of Turner syndrome may be one of the following:

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.

Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.

X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism).

Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effects of the missing or changed chromosome

The missing or changed X chromosome of Turner syndrome causes problems during fetal development and other developmental problems after birth - for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from these chromosomal issues vary greatly.

The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.

Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.

Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur 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.

High blood pressure. Turner syndrome can increase the 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. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.

Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.

Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with 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). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).

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 challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).

Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, 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 heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

1. Shah S, et al. Care of the adult woman with Turner syndrome. Climacteric. 2018; doi:10.1080/13697137.2018.1476969.

2. Turner syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome. Accessed Oct. 5, 2021.

3. Learning about Turner syndrome. National Human Genome Research Institute. https://www.genome.gov/Genetic-Disorders/Turner-Syndrome. Accessed Oct. 5, 2021.

4. Turner syndrome. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/turner-syndrome. Accessed Oct. 5, 2021.

5. Turner syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/factsheets/turner. Accessed Oct. 5, 2021.

6. Gravholt CH, et al. Turner syndrome: Mechanisms and management. Nature Reviews Endocrinology. 2019; doi:10.1038/s41574-019-0224-4.

7. Hutaff-Lee C, et al. Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome. American Journal of Medical Genetics Part C; Seminars in Medical Genetics. 2019; doi:10.1002/ajmg.c.31687.

8. Los E, et al. Growth and growth hormone in Turner syndrome: Looking back, looking ahead. American Journal of Medical Genetics Part C; Seminars in Medical Genetics 2019; doi:10.1002/ajmg.c.31680.

9. Backeljauw P, et al. Sex hormone replacement therapy for individuals with Turner syndrome. American Journal of Medical Genetics Part C; Seminars in Medical Genetics. 2019; doi:10.1002/ajmg.c.31685.

10. Turner Syndrome Society of the United States. https://www.turnersyndrome.org/. Accessed Oct. 5, 2021.

11. Mohamed S, et al. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. Cochrane Database of Systematic Reviews. 2019; doi:10.1002/14651858.CD010736.pub2.

12. Redel JM, et al. Turner syndrome: Diagnostic and management considerations for perinatal clinicians. Clinics in Perinatology. 2018; doi:10.1016/j.clp.2017.11.003.

13. Acosta AM, et al. Orthopaedic manifestations in Turner syndrome. Journal of the American Academy of Orthopedic Surgeons. 2019; doi:10.5435/JAAOS-D-17-00796.

14. Wick MJ (expert opinion). Mayo Clinic. Dec. 19, 2021.

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A genetic disorder that affects females-Turner syndrome - Symptoms & causes - Mayo Clinic

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Turner syndrome affects only females as the result of a missing or partially missing X chromosome, causing a variety of medical and developmental problems.

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organizations that promote Turners Syndrome 

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organizations that promote Turners Syndrome 

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Turners Syndrome Foundation. Turners Syndrome Foundation Started in 1987. Tuners Syndrome it effects only females,  short height, failure of the ovaries to develop and heart defects. When one x chromosomes (sex chromosomes) is missing or partially missing.

https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782#:~:text=Overview,to%20develop%20and%20heart%20defects.

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Overview

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

Products & Services

Symptoms

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ― a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ― or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:

Large fluid collection on the back of the neck or other abnormal fluid collections (edema)

Heart abnormalities

Abnormal kidneys

At birth or during infancy

Signs of Turner syndrome at birth or during infancy may include:

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

In childhood, teens and adulthood

The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:

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

When to see a doctor

Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation.

Causes

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.

The genetic changes of Turner syndrome may be one of the following:

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.

Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome.

X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism).

Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effects of the missing or changed chromosome

The missing or changed X chromosome of Turner syndrome causes problems during fetal development and other developmental problems after birth - for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from these chromosomal issues vary greatly.

Risk factors

The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.

Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.

Complications

Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur 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.

High blood pressure. Turner syndrome can increase the 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. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.

Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.

Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with 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). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).

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 challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).

Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, 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 heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

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Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.