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composed of stromal and germ cells. Hence, in these cases, early prophylactic exci-
sion of the gonads is recommended in TS women, considering that the risk increases
with age (from 2% at age 10 to 27.5% at 30years) [11].
Still, most patients with TS require induction of pubertal and hormone replace-
ment therapy with estrogen-progestational medications for adequate develop-
ment of the mammary glands and uterus and to get an acceptable peak of bone
mass. In these cases for monitoring, it is recommended to check the level of
gonadotropins (especially FSH) annually from the age of 11years to identify
hypergonadotropic hypogonadism and timely induction of puberty. It is also rec-
ommended in some cases to determine the level of anti-Mullerian hormone
(AMH) or inhibin B.A low level of these hormones may indicate a decrease in
the ovarian reserve [34, 35].
After induction of puberty, patients with TS require prolonged estrogen replace-
ment therapy. The goal of this therapy is to prevent osteoporosis, reduce the risk of
atherosclerosis, and improve cognitive functions [11, 16, 35].
The use of preparations containing natural estrogens per os or in parenteral forms
is recommended. Currently, preference is given to the transdermal route in order to
elude the rst-pass effect in the liver, avoiding many adverse effects of hormone
therapy. Transdermal 17β estradiol is recommended to be administered from the age
of 11–12 years. The minimum dose of 17β estradiol by transdermal route is
14–25μg, and the dose can be gradually increased up to adult dosage (50–100μg/
day) at 2–3years of therapy [15].
Progestagen (oral micronized progesterone or synthetic progestin) must be pre-
scribed in the case of withdrawal bleeding or 2years after initiation of estrogen
therapy to minimize the risk of endometrial cancer [7, 15]. The schedule of proges-
tin administration may be sequential—a minimum of 10 days per month—with
menstrual deprivation or as a continuous regimen that prevents menstrual
bleeding.
Estrogen deciency causes bone loss, endothelial dysfunction, decreased insulin
production, abnormal lipid pattern, increased central adiposity, and early athero-
sclerosis. In estrogen-decient females with TS, replacement therapy improves liver
enzyme abnormalities and some cognitive decits (reaction time, nonverbal pro-
cessing speed, short-term memory) [
36]. Therefore, the use of estrogen replacement
up to physiological doses should be maintained until the expected age of meno-
pause. Nonetheless, it is important to emphasize that neither the risk of breast can-
cer nor that of ovarian or endometrial cancer is higher in these patients than in the
general population [12].
2.3 Fertility andPregnancy
Regarding reproductive function, patients with TS are mostly infertile. In patients
with 45X monosomy, spontaneous pregnancy is uncommon and occurs in less than
0.5% of cases. The risk of developing congenital anomalies and chromosomal
pathologies in the newborns of such patients is extremely high. Among patients
with 45X/47XXX mosaicism, the incidence of spontaneous pregnancies reaches up
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to 14%, and the risk of congenital anomalies is less than 5% [37]. In most cases,
patients with TS are referred to oocyte donation and invitro fertilization. However,
the risk of rst trimester miscarriage is higher, probably due to uterine hypoplasia
and some uterine ischemia during pregnancy [33, 38, 39]. Cesarean rates are higher
due to cephalopelvic disproportion.
TS is associated with a variety of severe cardiovascular pathologies; therefore,
taking a decision on future pregnancy and the use of assisted reproductive technolo-
gies and cardiac assessment, including echocardiography and strict blood pressure
monitoring, is mandatory to these patients since the risk of death is extremely high.
The pregnancy is categorically contraindicated in patients with aortic
abnormalities.
Finally, prenatal diagnosis of TS allows the prediction of gonadal insufciency
in women demonstrating early evidence of ovarian function; hence, new techniques
of ovarian tissue cryopreservation with the aim of replantation might be suitable for
a few selected females with TS.
2.4 Osteoporosis
Patients with TS have low cortical mineral density, osteoporosis, and risk of frac-
tures. These conditions are probably related to a primary defect in bone formation.
Although the molecular defect remains to be identied, some genes located in X
chromosome are associated with connective tissue changes [40]. In women with TS,
the peak in bone mass is reduced by 25% compared to the general population of
women. The incidence of fracture in girls and adult women with TS is threefold
higher than in normal controls [41]. Girls with TS who have had spontaneous men-
arche have been found to achieve normal bone mass [42].
The prescription of GH therapy in combination with estrogen replacement ther-
apy before the age of 12 signicantly improves bone mineral density.
2.5 Cardiovascular Abnormalities
Cardiovascular abnormalities occur in 50% of patients with TS and are the leading
cause of early mortality, which is registered three times more often than in the main
female population [5–7, 43]. The life expectancy of such patients is reduced by
13years [44].
Congenital heart defects, aortic root dilatation and aortic dissection, ischemic
heart disease, and cerebrovascular disease contribute nearly 50% to the excess mor-
bidity in TS [45]. Dilatation of the root of the aorta, hypertension, and bicuspid
aortic valve have been reported as major cardiovascular concerns in TS [44, 46]. It
should also be noted that mortality from ischemic heart disease in patients with TS
is seven times higher than that among women in the control group [44].
Figure 2.1 shows the main cardiovascular anomalies associated with TS.
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Cardiovascular complications are related mainly to the hypoestrogenism, but it is
believed that differences in X chromosome gene expression can also play a role
[47]. Several genes localized in the X chromosome have been described as involved
in the control of cardiovascular functions such as the angiotensin type 2 receptor
and several kinases and transcription factors [48]. Moreover, the abnormal lipid
prole with high level of total and LDL cholesterol in patients with TS is responsi-
ble for the high risk of atherosclerosis development and cardiovascular complica-
tions [49, 50].
Bicuspid aortic valve is the most common congenital malformation (25–39.2%)
[46], and although it is usually an isolated abnormality, it may occur together with
other anomalies such as aortic coarctation. This combination may result in progres-
sive valve dysfunction due to calcication in the aortic valve and may cause aortic
stenosis or regurgitation in adulthood. Coarctation of the aorta affects 10% of
women with TS causing hypertension and seems to be more associated with severe
lymphoedema, perhaps due to abnormal lymphatic ow by compression of the
ascending aorta [4, 51].
Other abnormalities, such as partial anomalous venous drainage and mitral valve
abnormalities are more common among TS women, and left-side cardiac anomalies
are associated with endocarditis, with prophylactic antibiotics being essential before
surgical procedures.
Aortic anomaties
Elongated transverse arch
Aortic dissection
Aortic dilatation
Venous anomalies
Partial anomalous
venous connection
Valvular anomaly
Persistent left
superior vena cava
Bicuspid aortic
valve
Arch vessel anomaly
Aberrant right
subclavian artery
Coarctation
Cardiovascular
anomalies
associated with
TS
Fig. 2.1 Main cardiovascular complaints associated with Turner syndrome
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However, the most serious risk for females with TS is aortic dissection (risk of
36 per 100, 000/TS person year compared to 6 per 100, 000/year in general popula-
tion), which may occur several decades earlier than in the general female population
causing even sudden death [52].
Hypertension, a bicuspid aortic valve, and dilated aortic root (with an age-related
increase of the root diameter greater than the normal population) are risk factors for
dissection.
Surveillance for aortic root dilatation, treatment for hypertension, and prophy-
lactic medical therapy with timely surgical consultation are essential to reduce the
incidence of aortic dissection [18, 53].
Echocardiography should be included in the assessment of TS patients and
should be indicated periodically. Electrocardiogram should be carried out along
with the imaging studies because conduction or repolarization defects have been
reported attributed to neuroautonomic dysfunction [4].
2.6 Neurocognitive, Sexual, andBehavioral Problems
Usually patients with TS have normal intelligence with good verbal skills, although
some subjects may have problems in the neurocognitive and psychosocial spheres.
The severity of cognitive impairment is supposed to be associated with a karyotype
since these disorders are more pronounced in patients with 45X monosomy or rX
than in mosaic patterns [10]. It’s noteworthy that nearly 10% of girls with TS (espe-
cially those with an X-ring karyotype) may exhibit an intellectual impairment [54].
Difculties can arise with nonverbal training, performance of numerical work,
visual-spatial perception, motor coordination, and motor training. Patients with TS
have reduced working memory and processing speed; therefore, autism spectrum
disorders as well as attention decit and hyperactivity may be noted [54–58].
Low self-esteem, depression, anxiety, and difculties in sexual relations are also
common among patients with TS [59]. However, most of the series and studies suggest
that the high prevalence of depressive symptoms in TS’ patients is mainly due to hypo-
gonadism and subsequent hypoestrogenism and is not a direct effect of the absence of
the X chromosome. The incidence of depression in patients with TS is comparable to
that of women with premature ovarian failure with normal karyotype [60, 61].
Sexual function in women with TS is impaired compared with the general popu-
lation [62]. In addition, only 50–55% of patients with TS recognize to be sexually
active [63, 64], and among patients with regular relationships, a low level of sexual
satisfaction is noted [63]. One of the factors that more strongly affect sexual activity
is the height of women being sexually inactive patients of a shorter size than sexu-
ally active subjects [63].
Early detection of neurocognitive problems and the use of modern principles of
rehabilitation help improve achievement and social well-being in children with TS
[54, 65].
Therefore, it is recommended that children with TS be screened every year in
order to identify behavioral problems and undergo an ofcial neuropsychiatric
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testing at the main transitional stages of the child’s life [66]. However, as the neuro-
psychiatric and psychologic problems exist along all the life of these patients,
women with TC should have warranted full access to clinical psychologists and
psychiatrists for counseling related to anxiety and related conditions [4].
2.7 Sensorineural Disorders
Recurrent otitis media is a common complaint of TS women with a frequency rang-
ing from 61 to 88% of patients upon the different series [67, 68]. Girls with 45X
monosomy karyotype are more prone to middle ear problems than those with dele-
tions or mosaicism probably related to altered cranial bone structure [67–69].
Adolescent and young-adult women with TS have a progressive hearing impair-
ment, deteriorating rapidly in adult age. The hearing decline seems to consist of two
patterns: a mid-frequency dip and a high-frequency loss resembling age-related
hearing impairment [70].
Conductive hearing loss is found in 39–43% of girls under 16 [71, 72], and it
persists beyond the age of 20in around 20% of TS women [68]. This progressive
hearing loss seems to be more common in those with a history of recurrent ear infec-
tions earlier in life.
The main cause for the infection is the deformity in the pinna, more pronounced
in patients with a total deletion of the short arm of the X chromosome, as mono-
somy 45X0 or isochromosome [68]. Therefore, the conductive loss may have a
congenital origin. However, the pathophysiology of sensorineural lesions is not yet
fully understood. Some studies indicate that cochlear dysfunction is the cause of the
sensorineural impairment and it is possibly inuenced by estrogen deciency [73,
74]. Therefore, regular audiometric checks should be performed referring patients
to otorhinolaryngology departments.
2.8 Other Disorders
Congenital renal malformations are ninefold more common in women with TS than
in the general population [10]. These abnormalities include horseshoe kidney,
duplex systems, and rotated kidneys. Malformations are more common in 45X0
monosomy females, being related to neither hypertension nor other clinical symp-
toms. Nevertheless, renal ultrasound is recommended at diagnosis and should be
repeated at the time of adult transfer.
The most common ocular ndings linked to TS are strabismus, ptosis, and
amblyopia. All patients should have eye assessment carried out during follow-up if
required.
Multiple autoimmune diseases, such as chronic lymphocytic thyroiditis, celiac
disease, and inammatory bowel disease (especially Crohn’s disease), are also
commonly associated with TS, but the pathophysiologic mechanism of immune
alteration remains unclear [75].
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Autoimmune thyroid disease with outcome in clinical or subclinical hypothy-
roidism is detected in approximately 50% of patients. Therefore, regular monitor-
ization of thyroid hormones and antithyroid antibodies is mandatory in women with
TS and allows timely initiation of adequate substitution therapy [76].
2.9 Diagnosis
Diagnosis of Turner syndrome is not always simple. Unfortunately, often the syn-
drome is diagnosed late, and up to 38% of patients learn about their diagnosis in
adulthood [77]. However, in some cases, a diagnosis is possible at the prenatal
stage. When performing ultrasound, increased nuchal translucency, cystic hygroma,
and left-sided obstructive cardiac anomalies (especially coarctation of the aorta) in
a fetus can be TS markers [78]. The results of maternal serum screening may also
be abnormal; however, prenatal conrmation of the diagnosis requires amniocente-
sis or chorionic villus analysis. Karyotype is recommended to be repeated in post-
natal period [2, 15].
Nowadays, karyotyping is recommended if there is at least one of the following
signs: fetal hydrops or cystic hygroma, unexplained short stature, delayed puberty,
obstructive left-sided cardiac abnormality such as a bicuspid aortic valve, coarctation,
aortic stenosis, hypoplastic left heart syndrome or mitral valve abnormalities, charac-
teristic facial features (such as short broad neck with webbing, narrow palate, micro-
gnathia, low set ears, and down-slanted palpebral ssures with epicanthal folds), or in
a couple presenting with infertility. The combination of two or more cardiovascular
and/or kidney abnormalities specic for TS, as well as Madelung deformity, dysplas-
tic nails, multiple nevi, neuropsychological issues, and hearing loss associated with
short stature, is a clear indication for carrying out karyotyping [15].
2.10 Conclusion
Turner syndrome is a chromosomal abnormality affecting all stages of a woman’s
life—from intrauterine development to the adult period. The complex of congenital
anomalies associated with Turner syndrome is hypogonadism, hypoestrogenism,
cardiovascular complications, renal pathology, neurosensory disorders, metabolic
disorders, cognitive impairment, and difculties in social adaptation requiring early
diagnosis and timely treatment. The onset of GH therapy in childhood and the
timely initiation of pubertal and estrogen replacement therapy in adolescence and
adulthood allow patients with TS to have almost normal quality of life indicators
and to be psychologically and socially well adapted in society. Subsequently, during
adulthood endocrinological-gynecology units might diagnose conditions that may
debut later in life, including endocrino-metabolic, immunological, and sensorineu-
ral disorders such as diabetes, hypothyroidism, coeliac disease, hearing loss, etc.
and refer these patients to other consultants. Only the work of a multidisciplinary
team of specialists, including pediatricians, endocrinologists, gynecologists, cardi-
ologists, otolaryngologists, and psychologists, can optimize the management and
treatment of such patients (Table2.1).
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Table 2.1 Regular checks in Turner syndrome patients
Basal Yearly
3–5years of monitoring
Weight and stature x x
Tanner x
Blood pressure x x
Lab tests
Hemogram, lipid prole X X
Metabolism (liver enzymes, glucose
intolerance)
X X
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a
X/X
FSH, LH x
Autoimmunity X X
a
Karyotype x
Echocardiogram, EKG X X
a
X
Abdominal ultrasound X X
a
X
Gynecological ultrasound X X
Bone absorptiometry X X
a
X
Audiometry X X
a
X
a
When indicated
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