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Turner Syndrome

Turners Syndrome

Turner syndrome, first described in 1938 by Henry Turner, is as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female.

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Presentation

At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants. They also have increased chances of congenital hip dislocation.

In adults, short stature is due to both a slightly slower growth rate in childhood and to an essentially absent adolescent growth spurt. Prior to 11 years of age, few girls have height and growth rates that are well within the normal range, but heights are less than the 50th percentile for girls who do not have Turner syndrome [4].

A high arched palate suggests the diagnosis. Dental crowding or malocclusion can be seen in these people. Many patients have hypoplastic or hyperconvex nails. Excessive numbers of nevi, when compared to other members of the family, is usual.

Lymphedema in utero can cause a broad neck (webbed neck) and a low or indistinct hairline.

Cubitus valgus is a common skeletal anomaly in girls due to abnormal development of the trochlear head. Madelung’s deformities of the wrist are seen too. An undersized fourth and fifth metacarpal or metatarsal can be a clue to the presence of Turner syndrome.

The chest appears to be broad with widely spaced nipples (Shield chest). This may be caused in part by a short sternum.

Ptosis, strabismus, amblyopia, and cataracts are more common in girls with this syndrome. Epicanthal folds could be seen. Red-green color blindness is a condition linked to X chromosome and is believed to occur in girls with Turner syndrome as commonly as it does in males.

Serous otitis media is more common, probably because of low anatomic drainage of the middle ear, that may be because of high-arched palate [5]. The auricles may be posteriorly rotated or low set as a result of lymphedema. Otosclerosis leads to hearing loss in adults.

Gastrointestinal bleeding is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased.

Scoliosis occurs in 10% of adolescent girls with Turner syndrome and may contribute to short stature.

Blood pressure elevations may be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings. ardiovascular malformations include hypoplastic left heart [6], coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adolescence.

As many as half of patients have positive antithyroid antibodies, and 10-30% develop hypothyroidism [7]. This is often associated with thyroid enlargement.

Cutis laxa are the loose folds of skin, particularly in the neck, are signs in newborns.

Short Stature
  • METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov]
  • Turner syndrome (TS) is an important cause of short stature in girls. Patients with TS most often do not have growth hormone deficiency (GHD). Testing GH secretion is not indicated despite the presence of short stature.[ncbi.nlm.nih.gov]
  • Short stature was the main reason for referral of patients with and without TS.[ncbi.nlm.nih.gov]
  • During childhood, girls with Turner syndrome usually present with short stature. [3] In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature.[emedicine.com]
Coarctation of the Aorta
  • We describe hereunder a case of TS diagnosed with coarctation of the aorta due to high blood pressure detected by accident.[ncbi.nlm.nih.gov]
  • It is usually isolated, but it may be seen in combination with other anomalies, particularly coarctation of the aorta.[en.wikipedia.org]
  • […] of the aorta or renal anomalies but often occur even in the absence of such findings Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart [5], coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood[emedicine.com]
Lymphedema
  • Signs and symptoms At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema.[emedicine.com]
  • At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants.[symptoma.com]
  • The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema.[ncbi.nlm.nih.gov]
Atrial Septal Defect
  • septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Attention deficit hyperactivity disorder Attention deficit Attention deficit disorder Attention[rarediseases.info.nih.gov]
  • septal defect • MS mitral stenosis • VSD ventriculoseptal defect The occurrence of cardiac malformations in Turner syndrome (gonadal dysgenesis with sex chromosome aneuploidy) has long been recognized. 1 The most common heart defects are coarctation[pediatrics.aappublications.org]
Recurrent Otitis Media
  • otitis media Recurrent middle ear infection 0000403 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Secondary amenorrhea Previous menstrual periods stop 0000869 Shield chest 0000914 Short 4th metacarpal Shortened 4th[rarediseases.info.nih.gov]
  • Recurrent otitis media occurs in most girls with Turner syndrome.[doi.org]
High Arched Palate
  • Nine patients had a high-arched palate. Nine patients had class II first molar relationship occlusion and one had mesial step-type occlusion.[ncbi.nlm.nih.gov]
  • In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less frequently seen in TS.[ncbi.nlm.nih.gov]
  • Serous otitis media is more common, probably because of low anatomic drainage of the middle ear, that may be because of high-arched palate. The auricles may be posteriorly rotated or low set as a result of lymphedema.[symptoma.com]
  • Other characteristic physical findings These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family[emedicine.com]
Malocclusion
  • This case report shows a two-phase orthodontic treatment in a patient with Turner syndrome with a Class II malocclusion and severe deep bite, which is an unusual feature in patients with this disease.[ncbi.nlm.nih.gov]
  • Mouth - micrognathia, high palate and mandible abnormalities can result in crowding of teeth and malocclusion. Neck - short, webbed; low hairline. Chest - broad chest, pectus excavatum, inverted, hypoplastic, widely-spaced nipples.[patient.info]
  • Other characteristic physical findings These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family[emedicine.com]
Hypertension
  • Our case and previous literatures suggest that hypertension caused by pheochromocytoma which is a rare but important and potentially lethal cause of hypertension in Turner syndrome.[ncbi.nlm.nih.gov]
  • Sympathetic nervous system hyperactivity plays a role in development and progression of hypertension.[ncbi.nlm.nih.gov]
  • Twelve of 15 (80%) patients had an associated risk factor for aortic dilation such as a CVM or hypertension. The 3 (20%) patients who did not have a CVM or hypertension were all younger than 21 years.[ncbi.nlm.nih.gov]
  • Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported.[ncbi.nlm.nih.gov]
  • Hypertension was reported in 40 of 238 (17%) survey respondents. In 37 patients, the degree of hypertension was described as mild or moderate. In 3 patients, it was described as severe hypertension; none had aortic dilation.[pediatrics.aappublications.org]
Heart Failure
  • failure (history of cardiomyopathy), one right heart failure (history of sleep apnea), one left ventricular hypertrophy (prior aortic stenosis), and one valve abnormality.[doi.org]
  • If untreated, severe cases can result in insufficient blood flow to the organs of the body or eventually progress to congestive heart failure.[rarediseases.org]
Low Set Ears
  • Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome. Some girls may be diagnosed as teenagers because of a slow growth rate or a lack of puberty-related changes.[web.archive.org]
  • ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle[rarediseases.info.nih.gov]
  • Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature.[web.archive.org]
Hearing Problem
  • Patients also do not develop ovaries and are sterile, Turners patients suffer from numerous complications including heart disease, hypothyroidism, diabetes mellitus, vision problems and hearing problems.[house.wikia.com]
  • Other care Throughout life, tests should be done to look for: Hearing problems Thyroid disease High blood pressure Diabetes Heart problems High cholesterol Prevention Turner syndrome can’t be prevented.[cancercarewny.com]
  • Other features vary between patients but can include learning difficulties, sight or hearing problems, and kidney problems Causes: The complete or partial absence of an X chromosomes in some or all cells, meaning that affected women have one X chromosome[bigpictureeducation.com]
  • The condition is progressive, however, and commonly leads to hearing problems in later life, which may have serious social consequences. Otitis media (ear infection) is extremely common in girls with Turner Syndrome.[turnersyndrome.co.nz]
Hearing Impairment
  • impairment Deafness Hearing defect [ more ] 0000365 Hepatic steatosis Fatty infiltration of liver Fatty liver [ more ] 0001397 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hypermobility of[rarediseases.info.nih.gov]
  • They need ongoing ultrasounds (echocardiograms) every 1-5 years to monitor their hearts. 6 Hearing impairments 50%. 7 Turner syndrome can be difficult to diagnose with the information we get from other referring countries.[adoption.umn.edu]
  • Deafness may develop secondary to chronic otitis media; sensorineural hearing impairment. Mouth - micrognathia, high palate and mandible abnormalities can result in crowding of teeth and malocclusion. Neck - short, webbed; low hairline.[patient.info]
  • Hearing impairment is common and can be due to persistent (chronic) ear infections or deterioration of the nerves. 'Thinning' of the bones (osteoporosis).[patient.info]
Strabismus
  • Funnel chest 0000767 Pes planus Flat feet Flat foot [ more ] 0001763 Prolonged QT interval 0001657 Ptosis Drooping upper eyelid 0000508 Scoliosis Abnormal curving of the spine 0002650 Short toe Short toes Stubby toes [ more ] 0001831 Splayed toes 0011307 Strabismus[rarediseases.info.nih.gov]
  • […] low or indistinct hairline Cubitus valgus (increased carrying angle) Madelung deformities of the wrist Short fourth and fifth metacarpals and metatarsals Shield chest: The chest appears to be broad with widely spaced nipples Lymphedema Eyes: Ptosis, strabismus[emedicine.com]
  • Ptosis, strabismus, amblyopia, and cataracts are more common in girls with this syndrome. Epicanthal folds could be seen.[symptoma.com]
Ptosis
  • Definition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS ), and[hon.ch]
  • 0001658 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Numerous congenital melanocytic nevi 0005603 Pectus excavatum Funnel chest 0000767 Pes planus Flat feet Flat foot [ more ] 0001763 Prolonged QT interval 0001657 Ptosis[rarediseases.info.nih.gov]
  • […] neck and a low or indistinct hairline Cubitus valgus (increased carrying angle) Madelung deformities of the wrist Short fourth and fifth metacarpals and metatarsals Shield chest: The chest appears to be broad with widely spaced nipples Lymphedema Eyes: Ptosis[emedicine.com]
Epicanthal Folds
  • Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears, a webbed neck, and a shieldlike chest.[britannica.com]
  • folds can be present; red-green color blindness Ears: Serous otitis media is more common [4] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults GI bleeding: This is usually due to intestinal vascular[emedicine.com]
  • Epicanthal folds could be seen. Red-green color blindness is a condition linked to X chromosome and is believed to occur in girls with Turner syndrome as commonly as it does in males.[symptoma.com]
Hip Dislocation
  • 45 XO gentoype Associated condtitions medical sexual infantilism malignant hyperthermia common with anethesia orthopaedic cubitus valgus idiopathic scoliosis (may be exacerbated by growth hormone therapy) genu valgum short 4th metacarpals congenital hip[orthobullets.com]
  • Infants also have a higher incidence of congenital hip dislocation.[emedicine.com]
  • This leads to infertility in the majority of cases Widely spaced nipples Low hairline, webbed neck or extra skin at the neck Mild knee or elbow anomalies, hip dislocation Minor kidney issues.[adoption.umn.edu]
Swelling of Hand
  • On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses.[ncbi.nlm.nih.gov]
  • Turner syndrome Pathology Type Genetic Cause(s) Missing "X" chromosome Symptoms Short stature, swelling of hands and feet, broad chest, low hairline, sterility Mortality Rate Low Treatments Human growth hormone, estrogen, Show Information [Source] Turner[house.wikia.com]
  • Some are identified at birth with identified swelling of hands and feet and other females are only identified later in life when they present with premature ovarian failure or infertility.[adoption.umn.edu]
  • The following signs are more common in women with Turner Syndrome than in the general population: short stature, lymphodema (swelling of hands and feet), broad chest and widely spaced nipples, low hairline, low-set ears, and infertility.[isna.org]
  • Lymphedema Although most common in infants, lymphedema (swelling of hands and feet) may occur or reoccur at any age, and may be associated with the initiation of therapy with Growth Hormone or estrogen.[turnersyndrome.co.nz]
Skeletal Dysplasia
  • Comparisons with age-matched controls and height-matched controls, both from the general population (eg, short women without sex chromosome abnormalities) and those with other skeletal dysplasias (normal aortic root diameters may be different for population[pediatrics.aappublications.org]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Short sternum 0000879 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Anxiety Excessive, persistent worry and[rarediseases.info.nih.gov]
Hyperconvex Nails
  • Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best discriminators for girls with TS.[ncbi.nlm.nih.gov]
  • Other characteristic physical findings These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family[emedicine.com]
  • Many patients have hypoplastic or hyperconvex nails. Excessive numbers of nevi, when compared to other members of the family, is usual. Lymphedema in utero can cause a broad neck (webbed neck) and a low or indistinct hairline.[symptoma.com]
Cutis Laxa
  • laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy See Clinical Presentation for more detail.[emedicine.com]
  • Cutis laxa are the loose folds of skin, particularly in the neck, are signs in newborns. A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism.[symptoma.com]
Hypoplastic Nails
  • In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes. Infants also have a higher incidence of congenital hip dislocation.[emedicine.com]
  • The blend of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes in infants. They also have increased chances of congenital hip dislocation.[symptoma.com]
Alopecia
  • Herein, we present a 6 years old girl with Turner syndrome who had diagnoses of psoriasis, alopecia areata and trachyonychia and we would like to draw attention to the possible relationship between these diseases.[ncbi.nlm.nih.gov]
  • Skin lymphoedema - hands, feet, neck (pterygium coli), pigmented naevi, telangiectasias, vitiligo, keloid, seborrhoeic dermatitis; increased body hair with alopecia. There is a risk of keloid formation with surgery.[patient.info]
  • […] of people have these symptoms Abnormal fingernail morphology Abnormal fingernails Abnormality of the fingernails [ more ] 0001231 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Alopecia[rarediseases.info.nih.gov]
Pterygium Colli
  • The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline, avoid excessive scarring, and prevent recurrence.[ncbi.nlm.nih.gov]
Widely Spaced Nipples
  • nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Anxiety Excessive, persistent worry and fear 0000739 Aortic arch aneurysm 0005113 Broad neck Increased width of neck Wide neck [ more ] 0000475[rarediseases.info.nih.gov]
  • Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome. Some girls may be diagnosed as teenagers because of a slow growth rate or a lack of puberty-related changes.[web.archive.org]
  • A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples.[medicinenet.com]
Short Neck
  • The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema.[ncbi.nlm.nih.gov]
  • She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits.[ncbi.nlm.nih.gov]
  • The most frequently encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular[ncbi.nlm.nih.gov]
  • Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature.[web.archive.org]
Amenorrhea
  • A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L.[ncbi.nlm.nih.gov]
  • Abstract Most patients with Turner syndrome (TS) exhibit amenorrhea due to premature ovarian failure.[ncbi.nlm.nih.gov]
  • At a Glance Amenorrhea is the absence of menstrual blood flow.[clinicaladvisor.com]
  • A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy.[ncbi.nlm.nih.gov]
  • Premature ovarian failure (POF) is described as estrogen deficiency, amenorrhea, and hypergonadotropinemia in a woman 40 years old.[ncbi.nlm.nih.gov]
Primary Amenorrhea
  • A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO. Other laboratory values included FSH 45.52 IU/L, LH 17.4 IU/L, undetectable estradiol, and prolactin 1.08 nmol/L.[ncbi.nlm.nih.gov]
  • A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy.[ncbi.nlm.nih.gov]
  • Turner Syndrome (TS) due to the complete deletion of all or part of the X chromosome results in primary amenorrhea.[clinicaladvisor.com]
  • Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure.[ncbi.nlm.nih.gov]
  • The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16.[ncbi.nlm.nih.gov]
Delayed Menarche
  • Other prominent presenting features in teenage years are delayed puberty and delayed menarche, and in adult women, anovulation and infertility. TABLE 1.[doi.org]

Workup

A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism [9]. Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. Malignant gonadoblastomas or testicular tissue might be seen in these patients [9].

Both LH and FSH may be elevated in untreated patients younger than 4 years; they are later suppressed to normal or near-normal levels, but after 10 years of age they rise to menopausal levels [10].

Due to the high prevalence of hypothyroidism in association with Turner syndrome [7], obtain thyroid function tests at diagnosis; repeat TSH measurements every 1-2 years or if symptoms develop, as a person can develop hypothyroidism in later age.

Abnormalities of glucose metabolism, inclusive of overt diabetes mellitus, are commonly seen; screening for diabetes mellitus is best performed by obtaining a hemoglobin A1c or fasting glucose level. People suffering from this syndrome should have blood urea nitrogen (BUN), creatinine, fasting lipids, liver enzymes, measured annually after childhood for routine health maintenance.

Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. Get a karyotype by any of these methods if ultrasonography of a fetus reveals a nuchal cystic hygroma [11] [12], horseshoe kidney, left-sided cardiac abnormalities, or nonimmune fetal hydrops.

Delayed Bone Age
  • Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus.[ncbi.nlm.nih.gov]
Karyotype Abnormal
  • The relative proportions of karyotypic abnormalities found were: 45,X (59.3%); mosaicism 45,X/46,XX (22.9%); and structural abnormalities in chromosome X (17.8%).[ncbi.nlm.nih.gov]
  • The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality.[hon.ch]
  • A wide range of karyotypic abnormalities exists within Turner syndrome. When conventional karyotyping is performed using lymphocyte cultures, about 50% of patients show a 45,X chromosome constitution.[doi.org]

Treatment

Patients with Turner syndrome require screening for commonly associated chronic diseases.

Growth hormone therapy

  • In childhood, growth hormone therapy is the basis to avoid short stature as an adult [13] [14] [15].
  • The optimum age to begin this treatment has not been established; taller adult heights occur with the longest treatment durations before the start of puberty.
  • Growth hormone can have long-term favorable effects on lipids, despite of stopping it [16].

Sex hormone replacement therapy

  • Estrogen replacement therapy is generally needed, but commencing too early or taking doses that are too high can compromise adult height. Estrogen is generally given at age of 12-15 years. Regular low-dose estrogens should be cycled in a 3-weeks on, 1-week off regimen after 6-18 months; progestin can be added later.

Consultations with specialists like endocrinologist, cardiologist, nephrologist or urologist, and psychologist are needed as this syndrome affects all major systems of the body at some time or the other during its course [8].

Both short stature and ovarian failure are risk factors for osteoporosis, it should be seen that there is sufficient daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU).

Prognosis

Because Turner syndrome is a condition of missing or altered chromosomes, it is not curable. The prognosis of this syndrome can be better, with meticulous and regular monitoring of a person's health and early treatment of problems that can develop. Most of the females with Turner syndrome lead full and active lives and can expect a normal lifespan.

Etiology

Turner syndrome is caused by the absence of two complete copies of the X chromosome in some or all the cells. The exact reason for the loss of the second copy of the X chromosome hasn’t clearly been understood yet.

Epidemiology

Turner syndrome is one of the most common chromosomal abnormalities, seen in almost 1 in 2000 live-born female babies [1] [2].

Sex distribution
Age distribution

Pathophysiology

A girl inherits one X chromosome from each of the parents. In case a girl has Turner syndrome, one copy of the X chromosome is absent or significantly altered. The genetic transformations of Turner syndrome may be one of the following:

  • Complete absence of an X chromosome that generally occurs because of an error in either the father's sperm or the mother's egg. Therefore, all cells in the body have only one X chromosome - a condition called monosomy (45,X). In the majority of cases where monosomy occurs, the X chromosome comes from the mother [3].
  • In some cases, an error occurs in cell division during early stages of fetal development. Hence, few cells in the body have two integrated copies of the X chromosome and remaining cells have only one copy of the X chromosome, or they have one integrated and one changed copy. This condition is known mosaicism.
  • In a small percentage of cases of Turner syndrome, few cells have one copy of the X chromosome and remaining cells have a copy of the X chromosome and little Y chromosome material.

Prevention

There is currently no known method of prevention for Turner syndrome. It occurs randomly and is not hereditary. Hence it is not mandatory for the daughter to have it even if the mother has this disorder.

If there is suspicion of Turner syndrome during pregnancy, prenatal screening and diagnostic tests may be performed to determine if a mother's fetus has the disorder.

Summary

Turner syndrome is a condition that affects only females, resulting from an absent or incomplete sex chromosome. In some cases, the chromosome is missing in some cells but not in all, leading to a condition known as mosaicism or "Turner mosaicism".

Patient Information

Turner syndrome is a genetic disorder caused due to X chromosome anomaly and hence is always seen in females. It affects almost all the major systems in the body but is not a cause of mental retardation [17] as these people are more likely to be employed than other adult women [18].

Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension [17]. Almost all individuals are infertile, but pregnancy with donor embryos is possible [19].

The Turner Syndrome Society of the United States and other organizations arrange for tutorial materials, funds for families and data about support groups. Associations for parents give an opportunity to exchange ideas, form coping plans and find resources. A community for girls with Turner syndrome can help reinforce your self-esteem and provide you with a social network of people who understand your experience with Turner syndrome.

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Last updated: 2019-07-11 21:51