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***Turner Syndrome***

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Classification: Primary Hereditary Lymphedema with other symptoms

Named after Dr. Henry Turner who was one of the first to describe its features in the 1930's. An internist at the University of Oklahoma, he first identified a common set of traits or physical features in seven of his patients in an article published in 1938. This is a chromosomal condition caused when one of the two x chromosomes normally found in females is missing or incomplete. However, the actual chromosomal deficiency was not identified until 1959.

The condition is diagnosed, or confirmed by a blood test called a kerotype. The test analyzes the chromosomal composition of the individual. Another unique feature of Turner Syndrome is that is occurs only in females.

Characteristics include short stature, lack of ovarian development, webbed neck and/or arms, low hairline at the base of the neck. Other reported signs include cardio-vascular difficulties, kidney and thyroid problems, and scoliosis. Another complication of Turner Syndrome is lymphedema.

Because this is a chromosomal based disorder there is no cure. There are treatments however that can lesson the symptoms. These include growth hormone, estrogen replacement therapy.


Turner Syndrome: Affects only females because it is sex-linked.* Frequently the lymphatic system, (specifically the valves), is underdeveloped, resulting in childhood lymphoedema. This sometimes resolves by adolescence. Other features of Turner’s Syndrome include short stature, infertility, and sometimes problems with the heart, kidney, or thyroid.(XO instead of XX chromosome; not hereditary]


Lymphoedema Association of Australia[/b]


What is Turner syndrome?


Turner Syndrome Society of the United States


Turner Society Syndrome Support Society

Turner syndrome [TS] is a chromosome abnormality affecting only females, caused by the complete or partial deletion of the X chromosome. The incidence of TS is approximately 1:2000 live female births. 

Confirmation of a diagnosis of TS is by karyotype but a suspected diagnosis can be made by a series of characteristic physical features i.e. web neck, broad chest and widely spaced nipples, low hairline and increased carrying angle of the elbows and other features.  Two main clinical features of TS are short stature and non-functioning ovaries.  Diagnosis can be made at birth if, for instance, a newborn needs heart surgery because of coarctation of the aorta or because of oedema of the hands and feet.  Pre-natal diagnosis is sometimes made by chorionic villous sampling, amniocentesis or ultra sound.  However, most girls are diagnosed in early childhood when growth fails or later when the absence of a pubertal growth spurt and development of secondary sexual characteristics become apparent.

Girls with TS may have only a few or several of the features associated with TS, but short stature and infertility are nearly always present.  The possibility of growth hormone treatment for short stature and IVF for infertility are options now available to those with TS.

The majority of girls and women with TS are healthy, happy and  lead normal lives.

Turner Syndrome[TS]

Turner syndrome is named after an American endocrinologist Dr Henry Turner who, in 1938 described seven women patients with similar physical features including short stature and the absence of female sexual characteristics, increased skin folds in the neck and a wide carrying angle of the arms.  Earlier  [1930] a German paediatrician, Otto Ullrich, had described the same physical characteristics in female patients.  TS is sometimes known as Ullrich-Turner syndrome.  It was not until 1959 after the technique for analysing human chromosomes was developed that it was reported that one of the X chromosomes was missing in TS.  Later it was shown that the X chromosome can be missing from just some of the body cells or only part of the X chromosome can be missing.


Chromosome analysis [karyotype] is how a diagnosis of TS is confirmed.

Chromosomes are genetic material inherited 50/50 from both parents.  Normally each cell in the body has 23 pairs of chromosomes which make 46 chromosomes in total.  One pair of chromosomes are the sex chromosomes and these determine the sex of a baby.  In a male there will be an X and a Y chromosome[46XY] and in a female there will be two X chromosomes [46XX].  In TS there is only one X chromosome instead of the usual two [45X or 45XO] the O represents the missing X chromosome.  The missing X chromosome, [from either the mother’s egg or the father’s sperm] is an accident and is lost during the cell division that follows conception.  45XO is known as classic TS.  Sometimes the X chromosome is missing from only some of the cells [46XX/45XO] and this is known as Turner mosaic.  There are a number of other variations in the karyotype for TS, including ring chromosomes.  Sometimes a small part of a Y chromosome may be present in TS this is known as mixed gonadal dysgenesis.  A geneticist will give a full description of a karyotype and genetic counselling is recommended for all those diagnosed as having TS.

Physical features and clinical characteristics

The term ‘syndrome’ is used to describe a collection or combination of symptoms which result from a single cause, it does not necessarily mean that all are present in the person who has a syndrome.

There are number of physical features and clinical characteristics which may or may not be present in the girl/woman with Turner syndrome.  The following is not a comprehensive list but gives some of the possible features of TS.

Lymphoedema of hands and feet [puffy hands and feet]

Broad chest and widely spaced nipples

Droopy eyelids

Low hairline

Low-set ears

Spoon shaped, or small, or hyperconvex nails

Short fourth toe and short fingers

Web neck

High arch palate [which can sometimes lead to feeding problems in babies with TS]

Short stature

Cubitus Valgus[carrying angle of the arms where it is difficult to straighten the elbow]

Otitis media [middle ear infections]

Hearing problems

Myopia [short sightedness]

Pigmented naevi [moles]


High blood pressure

Kidney and urinary tract problems

Coarctation [narrowing or constriction of the aorta]

Thyroid problems

Small lower jaw [can lead to orthodontic problems]

Osteoporosis [due to lack of oestrogen, a result of ovarian failure]

Diabetes mellitus

Behavioural problems

Learning difficulties/spatial awareness problems [not mental retardation]


There are a number of treatments available to those with TS, and each girl/woman should be treated according to her individual needs.

TS is a ‘cradle to grave’ condition and as such should be treated throughout life in a variety of ways.  The girl/woman with TS should be under the care of an endocrinologist [doctor specialising in hormones], initially a paediatric endocrinologist followed by attendance at an Adult TS clinic;

there, in addition to an adult endocrinologist, there may be, for example, a gynaecologist/obstetrician present and possibly, hearing and cardiac specialists.  A psychologist may also be available to help with problems which may arise from low self esteem and specific learning difficulties.

Those diagnosed in utero or at birth should be under the care of a paediatrician immediately after birth.  Girls with TS usually grow at a normal rate until around 3 or 4 years of age when their growth may begin to slow down.  In the majority of girls with TS it is possible to increase their final height potential with growth hormone[GH] treatment and this will be discussed with parents by a paediatric endocrinolgist.  The success of growth hormone treatment depends on a number of factors such as the age at which GH treatment is started, compliance and when oestrogen is introduced.  There is also the possible use of oxandrolone [an anobolic steriod] to promote growth, and again this will be discussed by the specialist.  Oestrogen is used to induce secondary sexual characteristics i.e breast development and at an appropriate age is used with progestogen to induce withdrawal bleeds [periods].  Oestrogen is also important for proper mineralisation of bones. Women with TS are able to have an entirely normal sex life. Although girls/women with TS have non- functioning ovaries they have a normal uterus and vagina and it is possible that some women with TS will be able to have a child using a donor egg and IVF treatment.  But as in the normal population this is not guaranteed.

Babies with TS born with a heart murmur or narrowing of the aorta [coarctation] will need an expert cardiological assessment and occasionally need surgery to correct the problem.

Girls with TS are more prone than others to middle ear infections, and recurrent infections can lead to deafness if not promptly treated.  A consultation with an ear, nose and throat [ENT] specialist would be helpful.  All adults with TS need  regular hearing checks because a degree of hearing impairment is common.

High blood pressure is quite common in adolescents and adults with TS and should be checked regularly and if necessary treated.  There is also a slightly higher risk of diabetes and thyroid gland disorders in women with TS, and this too should be checked.

Osteoporosis can be a problem due to the lack of oestrogen, and HRT [hormone replacement therapy] can possibly help in preventing the early onset of osteoporosis.

Regular health checks are a must for women with TS, and attendance at a specialist adult TS clinic is desirable.  These clinics are specifically for women with TS and will usually have specialists from a variety of disciplines present.  Ask your GP or contact the TSSS for details of the nearest clinic to where you live.  Some hospitals have specialist adolescent clinics to aid the smooth transition from paediatric to adult care.

Occupational therapists, speech therapists, psychologists, educational psychologists, podiatrists, orthodontists, ENT, cardiologists, obstetrician/gynaecologists, endocrinologists, geneticists, dieticians, audiologists, endocrine nurses, ophthalmologists  are all specialists in their fields who can possibly help in the care and treatment of those with Turner syndrome. There are also support organisations which can offer practical tips and contact with others with TS.


Endocrinology and Turner Syndrome

Turner syndrome can cause physiologic and psychological problems that can affect normal development and maturation in females, even if it is not usually life-threatening. Effective treatment is available to minimize some of these effects and reduce many of the associated symptoms, if it is started soon enough. It is important to identify those with Turner syndrome early so that treatment can begin and promote normal growth and development as girls enter puberty.

Turner syndrome occurs in females when one of the X (female) chromosomes is missing or damaged. Typically, females have two X chromosomes (XX). These chromosomes not only determine the sex of a person but also have other influences. Sexual definition affects physiologic growth and development as well psychological development.

The most common features of Turner syndrome are short stature and reduced or absent development of the ovaries. As adults, women with this disorder are typically infertile. Other complications of Turner syndrome include defects of the kidneys and/or heart, thyroid disease, arthritis and skeletal disorders, and development of type 2 diabetes. As children, the onset of puberty is delayed if the disorder has not been identified and treatment begun. Such delays in sexual development may lead to poor social development and low self esteem. In addition, some girls may experience learning difficulties, particularly in the subject of mathematics. Problems such as underactive thyroid glands, abnormal liver function tests, a propensity to ear infections and hearing deficits, can also be seen. Symptoms may vary widely among those affected.

The genetic defect of Turner syndrome is relatively common, occurring in 1 of every 2,500 female births worldwide. Approximately 800 new cases are diagnosed each year in the US. The occurrence of the deleted or damaged X chromosome appears to be a random event. Thus, any couple can have a daughter with Turner syndrome. In addition, Turner syndrome equally affects those of different ethnic backgrounds

The cause or factors that put a couple at risk of having a daughter with Turner syndrome are not known. Typically, one sex determining chromosome is inherited from each parent producing a total of two such chromosomes per individual. Both males and females have at least one copy of an X chromosome while only males have one copy of a Y chromosome. Thus, female sex is determined by possession of two X chromosomes (XX) and male sex is determined by the combination of one X and one Y chromosome (XY).

In Turner syndrome, one of the X chromosomes is omitted or defective in the affected female. The figure at right shows the inheritance pattern of the sex chromosomes.

Diagnosis: Endocrinologists are doctors with specialized training in recognizing and treating endocrine disorders such as Turner syndrome. A blood test, called karyotyping, must be done to identify the presence of a damaged or deleted X chromosome. Nowadays, most affected girls can be recognized and diagnosed in early childhood, due to characteristic appearances and small size, whereas a few are still not diagnosed until they fail to enter puberty.

Treatment: The most commonly prescribed treatment for Turner syndrome includes the use of growth hormone to improve growth speed and final adult height, and estrogen replacement therapy to promote sexual development as should occur during puberty. Estrogen therapy is also important for the development and maintenance of bones. Some patients require other therapies, such as thyroid hormones.

Though most women are infertile, modern reproductive technologies such as in vitro fertilization can be used to help those that want to become pregnant.


Turner Syndrome, Its Symptoms and Treatments


Turner Syndrome

Turner syndrome (TS) is a genetic disorder that affects about one in every 3,000 females. Although researchers don't know exactly what causes Turner syndrome, they do know that it's the result of a problem with a girl's chromosomes (pronounced: krow-muh-soamz). Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome. The effects of the condition vary widely among girls with Turner syndrome. Some cases are mild whereas others are more pronounced, depending on how many of the body's cells are affected by the changes to the X chromosome.

Girls with Turner syndrome are usually short in height. If the Turner syndrome wasn't treated, most would reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with hormones to help her grow taller.

In addition to growth problems, Turner syndrome slows down a girl's sexual development and prevents the ovaries from developing properly. Because the ovaries are responsible for making the hormones that trigger other aspects of sexual development, such as breast growth and menstruation, most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls with Turner syndrome will be infertile, or unable to become pregnant on their own.

What Other Effects Can Turner Syndrome Have?
There are a number of other health problems that occur more often in girls with Turner syndrome. These include kidney problems, high blood pressure, heart problems, obesity, hearing difficulties, diabetes, cataracts, and thyroid problems. Some girls with the condition may experience learning difficulties, particularly in math. Many have a difficult time with tasks that require skills such as map reading or visual organization.

In addition to short stature and lack of sexual development, some of the other physical features commonly seen in girls with Turner syndrome are:

Because Turner syndrome can affect how a girl looks and develops, some girls may have problems with body image or self-esteem.

People with TS are all different. Some may have many physical differences and symptoms, whereas others experience only a few medical problems. With early and appropriate medical care and ongoing support, most people with TS can lead normal, healthy, and productive lives.

How Do Doctors Know If a Girl Has Turner Syndrome?
Girls with Turner syndrome are usually diagnosed with the condition either at birth or around the time they might be expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will usually order a special blood test called a karotype. The test counts the number of a person's chromosomes and can identify any that are abnormally shaped or have other structural changes. In some cases, there are no recognizable signs that a girl has the condition until she reaches the age at which she'd normally go through puberty.

If the karotype blood test reveals that a girl has Turner syndrome, her doctor may order additional tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome. The doctor may also do a pelvic exam and order a pelvic ultrasound, a test that allows a doctor to view inside a girl's body and see whether her reproductive organs are developing

How Is Turner Syndrome Treated?
Because Turner syndrome is a condition that is caused by a chromosomal abnormality, there's no specific cure. However, scientists have developed a number of treatments that can help correct some of the problems associated with the condition - such as growth problems - and researchers are constantly looking into new forms of treatment.

Growth hormone treatment can improve growth and influence a girl's final adult height. In fact, in many cases, the treatment can help many girls with Turner syndrome reach a final height in the average range.

Another treatment for Turner syndrome is estrogen replacement, which helps the girl develop the physical changes of puberty, including breast growth and eventually menstrual periods. This treatment is often started when a girl reaches about age 12 or 13. And a technique called in vitro fertilization can make it possible for some women with Turner syndrome to become pregnant. A donor egg can be used to create an embryo, which is then put into the uterus (womb) of the woman with Turner syndrome. With proper supportive care, the woman can carry the pregnancy to term and deliver a baby through the normal birth process.

Living With Turner Syndrome
Although people with Turner syndrome may have certain learning difficulties, the majority are able to attend regular school and classes and are generally able to:

If you have Turner syndrome, you know that it can affect you in several ways. But it's only a small part of your total physical, emotional, and intellectual self. The following are some suggestions that can help people cope:

If you have a friend who has Turner syndrome, remember to respect her emotional and physical needs. For example, she may not always feel comfortable talking about her condition, so let her share only what she feels OK with. You can also support your friend just by hanging out and doing things you enjoy together and being a good listener if she turns to you for advice or comfort.

Reviewed by: Steven Dowshen, MD
Date reviewed: July 2004

=======External Links========

Turner Syndrome Society of the United States|Turner Syndrome Society

What is Turner Syndrome?

Turner Syndrome

eMedicine Image Search – Turner Syndrome

Turner Syndrome: Toward Early Recognition and Improved Outcomes


Health supervision for children with Turner syndrome

National Guideline Clearinghouse

Turner Syndrome - National Institutes of Health

Turner Syndrome Research Today

Genetics Home Reference – Turner Syndrome

The Magic Foundation

Living with Turner Syndrome

========Abstracts and Studies===================

Thyroid ultrasound in patients with Turner syndrome: influence of clinical and auxological parameters. Apr 2011

The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. Sept 2009

Aortic dissection in Turner syndrome. Nov 2008

Turner syndrome in childhood and adolescence 2008


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