Turner Syndrome

Turner syndrome
Turner syndrome (TS) also known as Ullrich–Turner
syndrome, gonadal dysgenesis, and 45,X, is a condition
in which a female is partly or completely missing an X
chromosome.[1] Signs and symptoms vary among those
affected. Often, a short and webbed neck, low-set ears,
low hairline at the back of the neck, short stature, and
swollen hands and feet are seen at birth. Typically, they
are without menstrual periods, do not develop breasts, and
are unable to have children. Heart defects, diabetes, and
low thyroid hormone occur more frequently. Most people
with TS have normal intelligence. Many, however, have
troubles with spatial visualization such as that needed for
mathematics.[2] Vision and hearing problems occur more
often.[3]
Turner syndrome is not usually inherited from a person’s
parents.[4] No environmental risks are known and the
mother’s age does not play a role.[4][5] Turner syndrome is
due to a chromosomal abnormality in which all or part of
one of the X chromosomes is missing or altered. While Lymphedema, puffy legs of a newborn with Turner syndrome
most people have 46 chromosomes, people with TS usually have 45.[6] The chromosomal abnormality may be
• Lymphedema (swelling) of the hands and feet of a
present in just some cells in which case it is known as
newborn
[3]
TS with mosaicism. In these cases, the symptoms are
[7]
usually fewer and possibly none occur at all. Diagnosis
• Broad chest (shield chest) and widely spaced nipples
is based on physical signs and genetic testing.[8]
• Low hairline
No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hor• Low-set ears
mone injections during childhood may increase adult
• Reproductive sterility
height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often
• Rudimentary ovaries gonadal streak (underdevelrequired to manage other health problems with which TS
oped gonadal structures that later become fibrotic)
[9]
is associated.
• Amenorrhoea, the absence of a menstrual period
Turner syndrome occurs in between one in 2000[10] and
one in 5000 females at birth.[11] All regions of the world
• Increased weight, obesity
and cultures are affected about equally.[4] People with
TS have a shorter life expectancy, mostly due to heart
• Shortened metacarpal IV
problems and diabetes.[3] Henry Turner first described
• Small fingernails
the condition in 1938. In 1964, it was determined to be
[12]
due to a chromosomal abnormality.
• Characteristic facial features
• Webbed neck from cystic hygroma in infancy

1

Signs and symptoms

• Aortic valve stenosis
• Coarctation of the aorta

Of the following common symptoms of Turner syndrome, an individual may have any combination of symptoms and is unlikely to have all symptoms.

• Bicuspid aortic valve
• Horseshoe kidney

• Short stature

• Visual impairments - sclera, cornea, glaucoma, etc.
1

2

1

SIGNS AND SYMPTOMS

• Ear infections and hearing loss

prevalence of aortic valve abnormalities and coarctation
of the aorta, the two most common cardiovascular mal• High waist-to-hip ratio (the hips are not much bigger formations.
than the waist)
• Attention deficit hyperactivity disorder (problems
with concentration, memory, attention with hyper- 1.2.2 Congenital heart disease
activity seen mostly in childhood and adolescence)
The most commonly observed are congenital obstructive
• Nonverbal learning disability (problems with math, lesions of the left side of the heart, leading to reduced
social skills, and spatial relations)
flow on this side of the heart. This includes bicuspid aortic valve and coarctation (narrowing) of the aorta. More
Other features may include a small lower jaw than 50% of the cardiovascular malformations of indi(micrognathia), cubitus valgus,[13] soft upturned nails, viduals with Turner syndrome in one study were bicuspalmar crease, and drooping eyelids. Less common are pid aortic valves or coarctation of the aorta, alone or in
pigmented moles, hearing loss, and a high-arch palate combination.[20]
(narrow maxilla). Turner syndrome manifests itself
Other congenital cardiovascular malformations, such
differently in each female affected by the condition;
as partial anomalous venous drainage and aortic valve
therefore, no two individuals share the same features.
stenosis or aortic regurgitation, are also more comWhile most of the physical findings are harmless, signif- mon in Turner syndrome than in the general population.
icant medical problems can be associated with the syn- Hypoplastic left heart syndrome represents the most sedrome.
vere reduction in left-sided structures.

1.1

Prenatal

Despite the excellent postnatal prognosis, 99% of Turnersyndrome conceptions are thought to end in spontaneous
abortion or stillbirth,[14] and as many as 15% of all spontaneous abortions have the 45,X karyotype.[15] Among
cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of Turner syndrome among tested pregnancies was
5.58 and 13.3 times higher, respectively, than among live
neonates in a similar population.[16]

1.2
1.2.1

Cardiovascular
Prevalence of cardiovascular malformations

Bicuspid aortic valve Up to 15% of adults with Turner
syndrome have bicuspid aortic valves, meaning only two,
instead of three, parts to the valves in the main blood
vessel leading from the heart are present. Since bicuspid
valves are capable of regulating blood flow properly, this
condition may go undetected without regular screening.
However, bicuspid valves are more likely to deteriorate
and later fail. Calcification also occurs in the valves,[23]
which may lead to a progressive valvular dysfunction as
evidenced by aortic stenosis or regurgitation.[24]
With a prevalence from 12.5%[21] to 17.5% (DawsonFalk et al., 1992), bicuspid aortic valve is the most common congenital malformation affecting the heart in this
syndrome. It is usually isolated, but it may be seen in
combination with other anomalies, particularly coarctation of the aorta.

The prevalence of cardiovascular malformations among
patients with Turner syndrome ranges from 17% [17] to
45%.[18] The variations found in the different studies
are mainly attributable to variations in noninvasive methods used for screening and the types of lesions that they
can characterize.[19] However,[20] it could be simply attributable to the small number of subjects in most studies.

Coarctation of the aorta Between 5% and 10% of
those born with Turner syndrome have coarctation of the
aorta, a congenital narrowing of the descending aorta,
usually just distal to the origin of the left subclavian artery
(the artery that branches off the arch of the aorta to the
left arm) and opposite to the duct (and so termed “juxtaductal”). Estimates of the prevalence of this malformaDifferent karyotypes may have differing prevalence of
tion in patients with Turner syndrome range from 6.9[21]
cardiovascular malformations. Two studies found a
to 12.5% . A coarctation of the aorta in a female is sugprevalence of cardiovascular malformations of 30%[21]
gestive of Turner syndrome, and suggests the need for
and 38%[22] in a group of pure 45,X monosomy. Confurther tests, such as a karyotype.
sidering other karyotype groups, though, they reported a
prevalence of 24.3%[21] and 11%[22] in patients with mosaic X monosomy, and a prevalence of 11% in patients Partial anomalous venous drainage This abnormalwith X chromosomal structural abnormalities.[21]
ity is a relatively rare congenital heart disease in the genThe higher prevalence in the group of pure 45,X mono- eral population. The prevalence of this abnormality also
somy is primarily due to a significant difference in the is low (around 2.9%) in Turner syndrome. However, its

1.3

Skeletal

relative risk is 320 in comparison with the general population. Strangely, Turner syndrome seems to be associated with unusual forms of partial anomalous venous
drainage.[21][25]
In a patient with Turner syndrome, these left-sided cardiovascular malformations can result in an increased susceptibility to bacterial endocarditis. Therefore, prophylactic antibiotics should be considered when procedures
with a high risk of endocarditis are performed, such as
dental cleaning.[24]
Turner syndrome is often associated with persistent
hypertension, sometimes in childhood. In the majority
of Turner syndrome patients with hypertension, no specific cause is known. In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta.
1.2.3

Aortic dilation, dissection, and rupture

Two studies have suggested aortic dilatation in Turner
syndrome, typically involving the root of the ascending
aorta and occasionally extending through the aortic arch
to the descending aorta, or at the site of previous coarctation of the aorta repair.[26]
• A study that evaluated 28 girls with Turner syndrome found a significantly greater mean aortic root
diameter in patients with Turner syndrome than in
the control group (matched for body surface area).
Nonetheless, the aortic root diameters found in
Turner syndrome patients were still well within the
limits.[27]
• This has been confirmed by a study that evaluated 40
patients with Turner syndrome.[18] The study presented basically the same findings: a greater mean
aortic root diameter, which nevertheless remains
within the normal range for body surface area.
Whether aortic root diameters that are relatively large for
body surface area but still well within normal limits imply
a risk for progressive dilatation remains unproven.[20]

3
Risk factors for aortic rupture Cardiovascular malformations (typically bicuspid aortic valve, coarctation of
the aorta, and some other left-sided cardiac malformations) and hypertension predispose to aortic dilatation and
dissection in the general population. Indeed, these same
risk factors are found in more than 90% of patients with
Turner syndrome who develop aortic dilatation. Only a
small number of patients (around 10%) have no apparent predisposing risk factors. The risk of hypertension
is increased three-fold in patients with Turner syndrome.
Because of its relation to aortic dissection, blood pressure
must be regularly monitored and hypertension should be
treated aggressively with an aim to keep blood pressure
below 140/80 mmHg. As with the other cardiovascular
malformations, complications of aortic dilatation is commonly associated with 45,X karyotype.[24]

Pathogenesis of aortic dissection and rupture The
exact role that all these risk factors play in the process
leading to such fatal complications is still quite unclear.
Aortic root dilatation is thought to be due to a mesenchymal defect as pathological evidence of cystic medial necrosis has been found by several studies. The association between a similar defect and aortic dilatation is
well established in such conditions such as Marfan syndrome. Also, abnormalities in other mesenchymal tissues (bone matrix and lymphatic vessels) suggests a similar primary mesenchymal defect in patients with Turner
syndrome.[26] However, no evidence suggests that patients with Turner syndrome have a significantly higher
risk of aortic dilatation and dissection in absence of predisposing factors. So, the risk of aortic dissection in
Turner syndrome appears to be a consequence of structural cardiovascular malformations and hemodynamic
risk factors rather than a reflection of an inherent abnormality in connective tissue. The natural history of aortic
root dilatation is unknown, but because of its lethal potential, this aortic abnormality needs to be carefully followed.

1.3 Skeletal
Prevalence of aortic abnormalities The prevalence
of aortic root dilatation ranges from 8.8[26] to 42%[24] in
patients with Turner syndrome. Even if not every aortic
root dilatation necessarily goes on to an aortic dissection
(circumferential or transverse tear of the intima), complications such as dissection, aortic rupture resulting in
death may occur. The natural history of aortic root dilatation is still unknown, but it is linked to aortic dissection
and rupture, which has a high mortality rate.[28]
Aortic dissection affects 1 to 2% of patients with Turner
syndrome. As a result, any aortic root dilatation should
be seriously taken into account, as it could become a
fatal aortic dissection. Routine surveillance is highly
recommended.[24]

Normal skeletal development is inhibited due to a large
variety of factors, mostly hormonal. The average height
of a woman with Turner syndrome, in the absence of
growth hormone treatment, is 4 ft 7 in (140 cm). Patients with Turner’s mosaicism can reach normal average
height.
The fourth metacarpal bone (fourth toe and ring finger)
may be unusually short, as may the fifth.
Due to inadequate production of estrogen, many of those
with Turner syndrome develop osteoporosis. This can decrease height further, as well as exacerbate the curvature
of the spine, possibly leading to scoliosis. It is also associated with an increased risk of bone fractures.

4

1.4

2 CAUSE

Kidney

successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to
About one-third of all women with Turner syndrome have those women whose karyotypes are not 45,X.[31][32] Even
one of three kidney abnormalities:
when such pregnancies do occur, there is a higher than
average risk of miscarriage or birth defects, including
1. A single, horseshoe-shaped kidney on one side of Turner Syndrome or Down Syndrome.[33] Some women
the body
with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other
2. An abnormal urine-collecting system
fertility treatments.[34]
3. Poor blood flow to the kidneys
Usually estrogen replacement therapy is used to spur
growth of secondary sexual characteristics at the time
when puberty should onset. While very few women
with Turner Syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine
lining (“withdrawal bleeding”) to prevent its overgrowth.
Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the
patient desires. Estrogen therapy does not make a woman
1.5 Thyroid
with nonfunctional ovaries fertile, but it plays an important role in assisted reproduction; the health of the uterus
Approximately one-third of all women with Turner
must be maintained with estrogen if an eligible woman
syndrome have a thyroid disorder.[29] Usually it is
with Turner Syndrome wishes to use IVF (using donated
hypothyroidism, specifically Hashimoto’s thyroiditis. If
oocytes).
detected, it can be easily treated with thyroid hormone
Turner syndrome is a cause of primary amenorrhea,
supplements.
premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility. Failure to develop
1.6 Diabetes
secondary sex characteristics (sexual infantilism) is typical.
Women with Turner syndrome are at a moderately increased risk of developing type 1 diabetes in childhood Especially in mosaic cases of Turner syndrome that conand a substantially increased risk of developing type 2 tains Y-chromosome (e.g. 45,X/46,XY) due to the risk
diabetes by adult years. The risk of developing type 2 of development of ovarian malignancy (most common
gonadoblastoma) gonadectomy is recommended.[29]
diabetes can be substantially reduced by maintaining a is
[35]
Turner syndrome is characterized by primary
healthy weight.
amenorrhoea, premature ovarian failure, streak gonads
and infertility. However, technology (especially oocyte
donation) provides the opportunity of pregnancy in these
1.7 Cognitive
patients.
Turner syndrome does not typically cause intellectual dis- As more women with Turner syndrome complete pregability or impair cognition. However, learning difficulties nancy thanks to modern techniques to treat infertility, it
are common among women with Turner syndrome, par- has to be noted that pregnancy may be a risk of cardiovasticularly a specific difficulty in perceiving spatial relation- cular complications for the mother. Indeed, several studships, such as nonverbal learning disorder. This may also ies had suggested an increased risk for aortic dissection
manifest itself as a difficulty with motor control or with in pregnancy.[26] Three deaths have even been reported.
mathematics. While it is not correctable, in most cases The influence of estrogen has been examined but remains
it does not cause difficulty in daily living. Most Turner unclear. It seems that the high risk of aortic dissection
syndrome patients are employed as adults and lead pro- during pregnancy in women with Turner syndrome may
ductive lives.
be due to the increased hemodynamic load rather than
Some of these conditions can be corrected surgically.
Even with these abnormalities, the kidneys of most
women with Turner syndrome function normally. However, as noted above, kidney problems may be associated
with hypertension.

[24]
Of course these findings are
Also, a rare variety of Turner syndrome, known as "Ring- the high estrogen rate.
important
and
need
to
be
remembered while following
X Turner syndrome", has about a 60% association with
a
pregnant
patient
with
Turner
syndrome.
intellectual disability. This variety accounts for around
[30]
2–4% of all Turner syndrome cases.

1.8

Reproductive

2 Cause

Women with Turner syndrome are almost universally Turner syndrome is caused by the absence of one cominfertile. While some women with Turner syndrome have plete or partial copy of the X chromosome in some or

3.2

Postnatal

all the cells. The abnormal cells may have only one
X (monosomy) (45,X) or they may be affected by one
of several types of partial monosomy like a deletion of
the short p arm of one X chromosome (46,X,del(Xp))
or the presence of an isochromosome with two q arms
(46,X,i(Xq))[36] In mosaic individuals, cells with X
monosomy (45,X) may occur along with cells that are
normal (46,XX), cells that have partial monosomies, or
cells that have a Y chromosome (46,XY).[36] The presence of mosaicism is estimated to be relatively common
in affected individuals (67–90%).[36]

2.1

Inheritance

In the majority of cases where monosomy occurs, the X
chromosome comes from the mother.[37] This may be due
to a nondisjunction in the father. Meiotic errors that lead
to the production of X with p arm deletions or abnormal
Y chromosomes are also mostly found in the father.[38]
Isochromosome X or ring chromosome X on the other
hand are formed equally often by both parents.[38] Overall, the functional X chromosome usually comes from the
mother.

5
of Turner Syndrome were detected by abnormalities on
ultrasound. 69.1% of cases had one anomaly present, and
30.9% had two or more anomalies.[40]
An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum
screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely those with mosaic
karyotypes are less likely to have associated ultrasound
abnormalities.[40]
Although the recurrence risk is not increased, genetic
counseling is often recommended for families who have
had a pregnancy or child with Turner syndrome.

3.2 Postnatal
Turner syndrome can be diagnosed postnatally at any
age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands
and feet. However, it is also common for it to go undiagnosed for several years, typically until the girl reaches the
age of puberty/adolescence and she fails to develop properly (the changes associated with puberty do not occur).
In childhood, a short stature can be indicative of Turner
syndrome.[41]

In most cases, Turner syndrome is a sporadic event, and
for the parents of an individual with Turner syndrome the
risk of recurrence is not increased for subsequent pregnancies. Rare exceptions may include the presence of a
balanced translocation of the X chromosome in a parent, A test, called a karyotype or a chromosome analysis, anor where the mother has 45,X mosaicism restricted to her alyzes the chromosomal composition of the individual.
germ cells.[39]
This is the test of choice to diagnose Turner syndrome.

3
3.1

Diagnosis
Prenatal

4 Treatment
As a chromosomal condition, there is no cure for Turner
syndrome. However, much can be done to minimize the
symptoms. For example:[42]
• Growth hormone, either alone or with a low dose
of androgen, will increase growth and probably final
adult height. Growth hormone is approved by the
U.S. Food and Drug Administration for treatment of
Turner syndrome and is covered by many insurance
plans.[42][43] There is evidence that this is effective,
even in toddlers.[44]

45,X karyotype, showing an unpaired X at the lower right

Turner syndrome may be diagnosed by amniocentesis or
chorionic villus sampling during pregnancy.
Usually, fetuses with Turner syndrome can be identified
by abnormal ultrasound findings (i.e., heart defect, kidney
abnormality, cystic hygroma, ascites). In a study of 19
European registries, 67.2% of prenatally diagnosed cases

• Estrogen replacement therapy such as the birth control pill, has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are crucial
for maintaining good bone integrity, cardiovascular health and tissue health.[42] Women with Turner
Syndrome who do not have spontaneous puberty and
who are not treated with estrogen are at high risk for
osteoporosis and heart conditions.

6

8
• Modern reproductive technologies have also been
used to help women with Turner syndrome become
pregnant if they desire. For example, a donor egg
can be used to create an embryo, which is carried
by the Turner syndrome woman.[42]
• Uterine maturity is positively associated with years
of estrogen use, history of spontaneous menarche,
and negatively associated with the lack of current
hormone replacement therapy.[45]

5

Epidemiology

Approximately 99 percent of all fetuses with Turner syndrome result in spontaneous termination during the first
trimester.[46] Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the
United States.[29] The incidence of Turner syndrome in
live female births is believed to be around 1 in 2000.

6

History

The syndrome is named after Henry Turner, an
endocrinologist from Illinois, who described it in
1938.[47] In Europe, it is often called Ullrich–Turner syndrome or even Bonnevie–Ullrich–Turner syndrome to acknowledge that earlier cases had also been described by
European doctors.

[2] “What are the symptoms of Turner syndrome?". Eunice
Kennedy Shriver National Institute of Child Health and
Human Development. 30 November 2012. Retrieved 15
March 2015.
[3] Sybert VP, McCauley E; McCauley (September 2004).
“Turner’s syndrome”. N. Engl. J. Med. 351 (12): 1227–
38. doi:10.1056/NEJMra030360. PMID 15371580.
[4] “How many people are affected or at risk?". Eunice
Kennedy Shriver National Institute of Child Health and
Human Development. 30 November 2012. Retrieved 15
March 2015.
[5] Michael Cummings (2015). Human Heredity: Principles and Issues. Cengage Learning. p. 161. ISBN
9781305480674.
[6] “Turner Syndrome: Condition Information”. Eunice
Kennedy Shriver National Institute of Child Health and
Human Development. 30 November 2012. Retrieved 15
March 2015.
[7] “What causes Turner syndrome?". Eunice Kennedy
Shriver National Institute of Child Health and Human Development. 30 November 2012. Retrieved 15 March
2015.
[8] “How do health care providers diagnose Turner syndrome?". Eunice Kennedy Shriver National Institute of
Child Health and Human Development. 30 November
2012. Retrieved 15 March 2015.
[9] “What are common treatments for Turner syndrome?".
Eunice Kennedy Shriver National Institute of Child
Health and Human Development. 30 November 2012.
Retrieved 15 March 2015.

The first published report of a female with a 45,X
karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire, and Guy’s Hospital in
London.[48] It was found in a 14-year-old girl with signs
[10]
of Turner syndrome.

7

See also
• Gonadal dysgenesis, for related abnormalities,
• Other human sex chromosome aneuploids:
• XYY syndrome,
• Klinefelter syndrome (XXY),
• Triple X syndrome,
• Dermatoglyphics,
• Noonan syndrome, a disorder which is often confused with Turner syndrome because of several
physical features that they have in common.

8

References

[1] “Turner Syndrome: Overview”. Eunice Kennedy Shriver
National Institute of Child Health and Human Development. 3 April 2013. Retrieved 15 March 2015.

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and Y Chromosome Material: A Population Study”.
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(9). doi:10.1210/jcem.85.9.6800. Retrieved 5 February
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[36] Crespi B (2008). “Turner syndrome and the evolution of
human sexual dimorphism”. Evolutionary Applications 1
(3): 449–461. doi:10.1111/j.1752-4571.2008.00017.x.
[37] Monroy N, López M, Cervantes A, García-Cruz D, Zafra
G, Canún S, Zenteno JC, Kofman-Alfaro S; López; Cervantes; García-Cruz; Zafra; Canún; Zenteno; KofmanAlfaro (2002). “Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes”.
American Journal of Medical Genetics 107 (3): 181–189.
doi:10.1002/ajmg.10113. PMID 11807897.
[38] Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M,
Kaji M, Yamanaka C, Momoi T, Nakahata T; Yorifuji;
Muroi; Kawai; Mamada; Kaji; Yamanaka; Momoi; Nakahata (2002). “Parental origin of normal X chromosomes
in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a
45,X karyotype”. American Journal of Medical Genetics 111 (2): 134–139. doi:10.1002/ajmg.10506. PMID
12210339.

8

10

[39] Frías JL, Davenport ML; Davenport; Committee on Genetics Section on Endocrinology (2003). “Health Supervision for Children with Turner Syndrome”. Pediatrics
111 (3): 692–702. doi:10.1542/peds.111.3.692. PMID
12612263.
[40] http://www.turner-syndrom.dk/doc/videnskab/
Prenatalcounseling9.pdf
[41] http://www.medicinenet.com/turner_syndrome/page2.
htm#tocd
[42] Turner Syndrome Society of the United States. “FAQ 6.
What can be done?". Retrieved 2007-05-11.
[43] Bolar K, Hoffman AR, Maneatis T, Lippe B (2008).
“Long-term safety of recombinant human growth hormone in Turner syndrome”. J. Clin. Endocrinol. Metab.
93 (2): 344–51. doi:10.1210/jc.2007-1723. PMID
18000090.
[44] Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL,
Fechner PY, Gunther DF, Liu C, Geffner ME, Thrailkill
K, Huseman C, Zagar AJ, Quigley CA (2007). “Growth
hormone treatment of early growth failure in toddlers with
Turner syndrome: a randomized, controlled, multicenter trial”. J Clin Endocrinol Metab. 92 (9): 3406–16.
doi:10.1210/jc.2006-2874. PMID 17595258.
[45] “Uterine Development in Turner Syndrome”. GGH Journal 24 (1). 2008. ISSN 1932-9032.
[46] Urbach A, Benvenisty N; Benvenisty (2009). “Studying
early lethality of 45,XO (Turner’s syndrome) embryos
using human embryonic stem cells”. PLoS ONE 4
(1): e4175. doi:10.1371/journal.pone.0004175. PMC
2613558. PMID 19137066.
[47] Turner HH (1938). “A syndrome of infantilism, congenital webbed neck, and cubitus valgus". Endocrinology 23
(5): 566–74. doi:10.1210/endo-23-5-566.
[48] Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs
JH; Jones; Polani; De Almeida; Briggs (1959). “A sexchromosome anomaly in a case of gonadal dysgenesis
(Turner’s syndrome)". The Lancet 273 (7075): 711–3.
doi:10.1016/S0140-6736(59)91893-8. PMID 13642858.

9

Further reading
• Bondy CA; Turner Syndrome Study, Group (2007).
“Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study
Group”. J Clin Endocrinol Metab. 92 (1): 10–25.
doi:10.1210/jc.2006-1374. PMID 17047017.

10

External links

• Turner Syndrome Society of the United States
• Turner Syndrome at the National Institute of Child
Health and Human Development

EXTERNAL LINKS

• Turner Syndrome at NIH's Office of Rare Diseases
• Endocrine and Metabolic Diseases Information Service

9

11
11.1

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11.2

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machine-readable source provided. Own work assumed (based on copyright claims). Original artist: No machine-readable author provided.
The cat~commonswiki assumed (based on copyright claims).
• File:Puffy_feet.JPG Source: https://upload.wikimedia.org/wikipedia/commons/a/a1/Puffy_feet.JPG License: CC BY 2.0 Contributors:
http://www.aaa.dk/TURNER/ENGELSK/TURN_ORI.HTM#baby Original artist: ?

11.3

Content license

• Creative Commons Attribution-Share Alike 3.0