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Encyclopedia > Turner Syndrome
Turner Syndrome
Classification & external resources
ICD-10 Q96.
ICD-9 758.6
DiseasesDB 13461
MedlinePlus 000379
eMedicine ped/2330 
MeSH D014424

Turner syndrome or Ullrich-Turner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common. It occurs in about 1 out of every 2500 female births.[1] Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional; in rarer cases a second X chromosome is present but abnormal, while others with the condition have some cells with a second X and other cells without it. A normal female karyotype is labeled 46,XX; individuals with Turner syndrome are 45,X. In Turner syndrome, female sexual characteristics are present but generally underdeveloped. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... The XY sex-determination system is a well-known sex-determination system. ... ‹ The template below (Expand) is being considered for deletion. ... Karyogram of human male using Giemsa staining. ...

Contents

Symptoms

Common symptoms of Turner syndrome include:

  • Short stature
  • Lymphoedema (swelling) of the hands and feet
  • Broad chest (shield chest) and widely-spaced nipples
  • Low hairline
  • Low-set ears
  • Reproductive sterility
  • Amenorrhea, or the absence of a menstrual period
  • Increased weight, obesity

Other symptoms may include a small lower jaw (micrognathia), cubitus valgus (turned-out elbows), a webbed neck, soft upturned nails, Simian crease and drooping eyelids. Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms. Lymphedema is a condition of localized fluid retention caused by a compromised lymphatic system. ... Amenorrhoea (BE) or amenorrhea (AmE) is the absence of a menstrual period in a woman of reproductive age. ... Cubitus valgus: A deformity of the elbow resulting in an increased carrying angle (so that, with the arm extended at the side and the palm facing forward, the forearm and hand are held at greater than 15 degrees). ... A webbed neck is a description of a skin fold that runs along the sides of the neck down to the shoulders. ... A simian crease is a single palmar crease (extending across the palm of the hand), as opposed to the two creases people normally have. ... In ophthalmology, ptosis is an abnormally low position (drooping) of the upper eyelid which may grow more or less severe during the day. ... A mole, technically known as a melanocytic naevus, is a small, dark spot on human skin. ...


Nondisjunction

During meiosis in either parent, a nondisjunction event can occur that leaves the gamete, either oocyte or spermatocyte, with neither X nor Y chromosome. When this gamete combines with a gamete from the other parent (with a normal X chromosome), the embryo lacks the normal two chromosomes. Normally, humans have 46 chromosomes, so this leaves the embryo with 45 chromosomes and a single X chromosome, denoted 45,X (or, sometimes 45,XO, where the "O" is used as a placeholder). This is found in 50% of individuals with Turner syndrome. For the figure of speech, see meiosis (figure of speech). ... Nondisjunction is the failure of the chromosomes to properly segregate during meiotic or mitotic anaphase, resulting in daughter cells with abnormal numbers of chromosomes. ... A gamete is a specialized germ cell that fuses with another gamete during fertilization (conception) in organisms that reproduce sexually. ... An oocyte or ovocyte is a female gametocyte or germ cell involved in reproduction. ... Spermatogenesis refers to the creation, or genesis, of sperm cells, which occurs in the male gonads or testes. ...


Chromosomal structure

An X chromosome can form a ring chromosome for example by losing a portion of the smaller arm, enabling the end of the long arm to wrap around. This is detrimental for the X chromosome in two ways. Either the lost portion itself makes the chromosome less functional, or it causes nondisjunction, as described above. Thus, the causes listed here are partly overlapping. Formation of a ring chromosome. ...


When such a ring chromosome combines with another ring chromosome in fertilization, the pair is denoted as 46, XrXp-, where rXp- means a ring chromosome missing the small (p) arm of the chromosome.


Another variant of abnormal chromosomal structure is chromosomes with two long arms of the X chromosomes attached, and are called isochromosomes. An isochromosome is a chromosome which has lost one of its arms and replaced it with an exact copy of the other arm. ...


Variants of chromosomal structure occur in 30% of individuals with Turner syndrome.


Nonfunctional Y

Very rarely, the embryo has a normal X chromosome and a portion of the Y chromosome. In these cases, the Y chromosome does not have a functional SRY (and so develops as a female), the diagnosis is XY gonadal dysgenesis.[2] It is possible that some Turner syndrome diagnosis is due to gonadal dysgenesis, particularly when it is caused by a large deletion of the Y chromosome. This article is about the SRY gene. ... Swyer syndrome, or XY gonadal dysgenesis, is a type of female hypogonadism in which no functional gonads are present to induce puberty in an otherwise normal girl whose karyotype is then found to be XY. Her gonads are found to be nonfunctional streaks. ...


Mosaicism

Each of the causes mentioned above can occur as a mosaicism, that is, some of the cells carry the mutation and some don't. This happens if the error takes place in one cell after the very first divisions of the early embryo after fertilization. The exact mixture of the two different cell types depends on when the nondisjunction occurred. However, if the nondisjunction occurs after enough divisions, the fraction of abnormal cells is probably not large enough to show any significant effects. For instance, such a 45,X/46,XY individual will develop as a male, without Turner syndrome. Mosaicism is found in about 20% of individuals with Turner syndrome. Mosaicism In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ... Categories: Biology stubs ...


No single Y

There is no equivalent syndrome which results in a Y chromosome with no X, as such a condition is fatal in utero. Because an embryo with Turner syndrome doesn't have a Y chromosome (or, doesn't have a functional SRY on the Y chromosome), it will move along the path to female development.


Risk factors

Risk factors for Turner syndrome are not well known. Nondisjunctions increase with maternal age, such as for Down syndrome, but that effect is not clear for Turner syndrome.


Incidence

Approximately 98% of all fetuses with Turner syndrome spontaneously abort. Turner syndrome accounts for about 10% of the total number of spontaneous abortions in the United States. The incidence of Turner syndrome in live female births is believed to be 1 in 2500. Miscarriage or spontaneous abortion is the natural or spontaneous end of a pregnancy at a stage where the embryo or the fetus is incapable of surviving, generally defined in humans at a gestation of prior to 20 weeks. ...


History

The syndrome is named after Henry Turner, an Oklahoma endocrinologist, who described it in 1938.[3] In Europe, it is often called Ullrich-Turner syndrome or even Bonnevie-Ulrich-Turner syndrome to acknowledge that earlier cases had also been described by European doctors. Henry H. Turner was born August 28, 1892, in Harrisburg, Illinois. ...


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.[4] It was found in a 14-year-old girl with signs of Turner syndrome. Karyogram of human male using Giemsa staining. ... St. ... Guys Hospital for Incurables. An illustration from John Stows Survey of London (1755). ... This article is about the capital of England and the United Kingdom. ...


Diagnosis

Turner syndrome may be diagnosed by amniocentesis during pregnancy. Sometimes, fetuses with Turner syndrome are identified by abnormal ultrasound findings (i.e. heart defect, kidney abnormality, cystic hygroma, ascites). Although the recurrence risk is not increased, genetic counseling is often recommended for families who have had a pregnancy or child with Turner syndrome. Amniocentesis, or an Amniotic Fluid Test (AFT), is a medical procedure used for prenatal diagnosis, in which a small amount of amniotic fluid is extracted from the amnion around a developing fetus. ... For other uses, see Ultrasound (disambiguation). ... Lymphangioma, also known as cystic hygroma, is a benign proliferation of tumored lymph vessels, and is rare. ... Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or...


A blood test, called a karyotype, analyzes the chromosomal composition of the individual. This is the most commonly used blood test to diagnose Turner syndrome. Karyogram of human male using Giemsa staining. ...


Prognosis

While most of the symptoms of Turner syndrome are harmless, some can lead to significant medical problems.


Cardiovascular

Price et al. (1986 study of 156 female patients with Turner syndrome) showed a significantly greater number of deaths from diseases of the circulatory system than expected, half of them due to congenital heart disease. When patients with congenital heart disease were omitted from the sample of the study, the mortality from circulatory disorders was not significantly increased. Cross-section of a healthy heart. ...


Cardiovascular malformations are a serious concern as it is the most common cause of death in adults with Turner syndrome. It takes an important part in the 3-fold increase in overall mortality and the reduced life expectancy (up to 13 years) associated with Turner syndrome.


Cause

According to Sybert, 1998 the data are inadequate to allow conclusions about phenotype-karyotype correlations in regard to cardiovascular malformations in Turner syndrome because the number of individuals studied within the less common karyotype groups is too small. Other studies also suggest the presence of hidden mosaicisms that are not diagnosed on usual karyotypic analyses in some patients with 45X karyotype. Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ... Karyogram of human male using Giemsa staining. ...


In conclusion, the associations between karyotype and phenotypic characteristics, including cardiovascular malformations, remain questionable.


Prevalence of cardiovascular malformations

The prevalence of cardiovascular malformations among patients with Turner syndrome ranges from 17% (Landin-Wilhelmsen et al, 2001) to 45% (Dawson-Falk et al, 1992).


The variations found in the different studies are mainly attributable to variations in non-invasive methods used for screening and the types of lesions that they can characterize (Ho et al, 2004). However Sybert, 1998 suggests that it could be simply attributable to the small number of subjects in most studies.


Different karyotypes may have differing prevalence of cardiovascular malformations. Two studies found a prevalence of cardiovascular malformations of 30% (Mazanti et al, 1998 …594 patients with Turner syndrome) and 38% (Gotzsche et al, 1994 …393 patients with Turner syndrome) in a group of pure 45X monosomy. But considering other karyotype groups, they reported a prevalence of 24.3% (Mazanti et al, 1998) and 11% (Gotzsche et al, 1994) in patients with mosaic X monosomy , and Mazanti et al, 1998 found a prevalence of 11% in patients with X chromosomal structural abnormalities.


The higher prevalence in the group of pure 45X monosomy is primarily due to a significant difference in the prevalence of aortic valve abnormalities and aortic coarctation, the two most common cardiovascular malformations. The aortic valve is one of the valves of the heart. ... Sketch showing heart with coarctation of the aorta. ...


Congenital heart disease

The most commonly observed are congenital obstructive lesions of the left side of the heart, leading to reduced flow on this side of the heart. This includes bicuspid aortic valve and coarctation of the aorta. Sybert, 1998 found that more than 50% of the cardiovascular malformations observed in her study of individuals with Turner syndrome were bicuspid aortic valves or coarctation of the aorta, alone or in combination. A bicuspid aortic valve is a heart condition that is usually due to a congenital deformity. ...


Other congenital cardiovascular malformations such partial anomalous venous drainage and aortic stenosis or aortic regurgitation are also more common in Turner syndrome than in the general population. Hypoplastic left heart syndrome represents the most severe reduction in left-sided structures. Aortic valve stenosis (AS) is a heart condition caused by the incomplete opening of the aortic valve. ...


Bicuspid aortic valve. Up to 15% of adults with Turner syndrome have bicuspid aortic valves, meaning that there are only two, instead of three, parts to the valves in the main blood vessel leading from the heart. 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,[5] which may lead to a progressive valvular dysfunction as evidenced by aortic stenosis or regurgitation (Elsheikh et al, 2002). f you all The blood vessels are part of the circulatory system and function to transport blood throughout the body. ... The heart and lungs, from an older edition of Grays Anatomy. ... Dystrophic calcification is the mineralization of soft tissue without a systemic mineral imbalance. ...


With a prevalence from 12.5% (Mazanti et al, 1998) to 17.5% (Dawson-Falk 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.


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 and opposite to the duct (and so termed “juxtaductal”). Estimates of the prevalence of this malformation in patients with Turner syndrome ranges from 6.9% (Mazanti et al, 1998) to 12.5% (Dawson-Falk et al, 1992). A coarctation of the aorta in a female might is suggestive of Turner syndrome, and suggests the need for further tests, such as a karyotype. Aortic coarctation is narrowing of the aorta in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts. ...


Partial anomalous venous drainage. This abnormality is a relatively rare congenital heart disease in the general population. The prevalence of this abnormality also is low (around 2.9%) in Turner syndrome. However, it's relative risk is 320 in comparison with the general population. Strangely, Turner syndrome seems to be associated with quite unusual forms of partial anomalous venous drainage. (Mazanti et al, 1998 and Prandstraller et al, 1999)


in the management of a patient with Turner syndrome it is essential to keep in mind that these left-sided cardiovascular malformations in Turner syndrome result in an increased susceptibility to bacterial endocarditis. Therefore prophylactic antibiotics should be considered when procedures with high risk endocarditis are performed, such as dental cleaning (Elsheikh et al, 2002).


Turner syndrome is often associated with persistent hypertension, sometimes in childhood. In the majority of Turner syndrome patients with hypertension, there is no specific cause. In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta. For other forms of hypertension, see Hypertension (disambiguation). ...


Aortic dilation, dissection and rupture

Two studies had 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 (Lin et al, 1998).

  • Firstly Allen et al, 1986 who evaluated 28 girls with Turner syndrome found a significantly greater mean aortic root diameter in patients with Turner syndrome than that of the control group (matched for body surface area). Nonetheless it is important to add that the aortic root diameter found in Turner syndrome patients were still well within the limits.
  • This has been confirmed by the study of Dawson-Falk et al, 1992 who evaluated 40 patients with Turner syndrome. They presented basically the same findings, that means a greater mean aortic root diameter which however remains in the normal range for body surface area.

Sybert, 1998 points out the fact that it however remains unproven that aortic root diameters, relatively large for body surface area but still well within normal limits, imply a risk for progressive dilatation.

Prevalence
The prevalence of aortic root dilatation ranges from 8,8% (Lin et al, 1986) to 42% (Elsheikh et al, 2001) 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, rupture and possibly death often occur. Indeed even if the natural history of aortic root dilatation is still unknown, it is a fact that it is linked aortic dissection and rupture, resulting in high mortality.[6]

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 abnormality. Routine surveillance is highly recommended (Elsheikh et al, 2002). Aortic dissection is a tear in the wall of the aorta (the largest artery of the body). ...

Risk factors
It is well established that 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.
At the same time it has been shown that these risk factors are highly present in Turner syndrome. 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.
It is important to note that the risk of hypertension is increased 3-fold in patients with Turner syndrome. Because of its relation to aortic dissection blood pressure needs to be regularly monitored and hypertension should be treated aggressively with an aim to keep blood pressure below 140/80 mmHg.
It has to be noted that as with the other cardiovascular malformations, complications of aortic dilatation is commonly associated with 45X karyotype (Elsheikh et al, 2002).
Pathogenesis
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 (Lin et al, 1986).
However there is no evidence to suggest 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 (Sybert, 1998).
As no studies have been able to clearly expose the natural history of aortic root dilatation and because of its lethal potential, this aortic abnormality needs to be carefully followed-up.
Pregnancy
As more women with Turner syndrome complete pregnancy thanks to the new modern techniques to treat infertility, it has to be noted that pregnancy may be a risk of cardiovascular complications for the mother.
Indeed several studies had suggested an increased risk for aortic dissection in pregnancy (Lin et al, 1998). Three deaths have even been reported. The influence of estrogen has been examined but remains unclear. It seems that the high risk of aortic dissection during pregnancy in women with Turner syndrome may be due to the increased hemodynamic load rather than the high estrogen rate (Elsheikh et al, 2002).
Of course these findings are important and need to be remembered while following a pregnant patient with Turner syndrome.

Cardiovascular malformations in Turner syndrome are also very serious, not only because of their high prevalence in that particular population but mainly because of their high lethal potential and their great implication in the increased mortality found in patients with Turner syndrome. Congenital heart disease needs to be explored in every female newly diagnosed with Turner syndrome. As adults are concerned closed surveillance of blood pressure is highly needed to avoid a higher risk of fatal complications in aortic root dilatation. Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue characterized by disproportionately long limbs, long thin fingers, a typically tall stature, and a predisposition to cardiovascular abnormalities, specifically those affecting the heart valves and aorta. ... Estriol. ...


A greater knowledge of the natural history and pathogenesis is needed in order to propose a better management and prevention of these malformations. It would therefore be interesting to examine the different causes mentioned by some studies in order to explain why patients with Turner syndrome are more susceptible to cardiovascular malformations that the general population.


Skeletal

Normal skeletal development is inhibited due to a large variety of factors, mostly hormonal. The head, neck, and chest of women with Turner syndrome are usually of normal size, but the arms and legs are unusually short. The average height of a woman with Turner syndrome is 4'7", about 140 cm.


The fourth metacarpal bone (fourth toe and ring finger) may be unusually short.


Due to inadequate circulation 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. Estriol. ... Osteoporosis is a disease of bone in which the bone mineral density (BMD) is reduced, bone microarchitecture is disrupted, and the amount and variety of non-collagenous proteins in bone is altered. ... It has been suggested that Bone healing be merged into this article or section. ...


Kidney

Approximately one-third of all women with Turner syndrome have one of three kidney abnormalities:

  1. A single, horseshoe-shaped kidney on one side of the body, and no kidney on the other side.
  2. An abnormal urine-collecting system.
  3. Poor blood flow to the kidneys.

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. For other forms of hypertension, see Hypertension (disambiguation). ...


Thyroid

Approximately one-third of all women with Turner syndrome have a thyroid disorder. Usually it is hypothyroidism, specifically Hashimoto's thyroiditis. If detected, it can be easily treated with thyroid hormone supplements. This article or section does not cite its references or sources. ... Hashimotos thyroiditis or chronic lymphocytic thyroiditis is an autoimmune disease where the bodys own antibodies attack the cells of the thyroid. ...


Diabetes

Women with Turner syndrome are at a moderately increased risk of developing type 1 diabetes in childhood and a substantially increased risk of developing type 2 diabetes by adult years. The risk of developing type 2 diabetes can be substantially reduced by maintaining a normal weight. This article is about the disease that features high blood sugar. ... See diabetes mellitus for further general information on diabetes. ...


Cognitive

Turner syndrome does not typically cause mental retardation or impair cognition. However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, such as Nonverbal Learning Disorder. This may also manifest itself as a difficulty with motor control or with mathematics. While it is non-correctable, in most cases it does not cause difficulty in daily living. Nonverbal Learning Disorder (NLD) (also known as NVLD) is a frequently misdiagnosed state of anxiety, confusion and social withdrawal caused by neurologically-based inabilities to send and receive common gestures, facial expressions and body-language cues. ... Euclid, Greek mathematician, 3rd century BC, as imagined by by Raphael in this detail from The School of Athens. ...


Reproductive

Women with Turner syndrome are almost universally infertile. While some women with Turner syndrome have successfully become pregnant and carried their pregnancies to term, this is very rare and is generally limited to those women whose karyotypes are not 45X0.[7] Even when such pregnancies do occur, there is a higher than average risk of miscarriage or birth defects, including Turner Syndrome or Down Syndrome.[8] Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use IVF or other fertility treatments.[9] Infertility primarily refers to the biological inability of a man or a woman to contribute to conception. ... Miscarriage or spontaneous abortion is the natural or spontaneous end of a pregnancy at a stage where the embryo or the fetus is incapable of surviving, generally defined in humans at a gestation of prior to 20 weeks. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... In vitro fertilization (IVF) is a technique in which egg cells are fertilized outside the mothers body in cases where conception is difficult or impossible through normal intercourse. ...


Usually hormone replacement is used to spur growth of secondary sexual characteristics at the time when puberty should onset. This generally induces menstruation, though the vast majority of women with Turner syndrome will still be infertile.


Treatment

As a chromosomal condition, there is no "cure" for Turner syndrome. However, much can be done to minimize the symptoms. For example:[10]

  • Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are also important for maintaining good tissue and bone integrity.[10]
  • 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.[10] However, in some countries egg donation is illegal.

Growth hormone (GH) or somatotropin (STH) is a protein hormone which stimulates growth and cell reproduction in humans and other animals. ... Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... “FDA” redirects here. ... Hormone replacement therapy (HRT) is a system of medical treatment for perimenopausal and postmenopausal women, based on the assumption that it may prevent discomfort and health problems caused by diminished circulating estrogen hormones. ... Reproductive technology is a term for all current and anticipated uses of technology in human and animal reproduction, including: artificial insemination artificial wombs cloning (see human cloning for the special case of human beings) cryopreservation of sperm, oocytes, embryos embryo transfer germinal choice technology hormone treatment to increase fertility in...

Links

See also

Gonadal dysgenesis generally refers to a condition where gonadal development is abnormal, often only presenting streaks of connective tissue. ...

References

  1. ^ National Institutes of Health (2004). Clinical Features of Turner syndrome. Retrieved on 2006-07-17.
  2. ^ OMIM entry for SRY
  3. ^ Turner HH. (1938). A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 23:566-574.
  4. ^ Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH (April 4, 1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)". Lancet 273 (7075): 711-3. PMID 13642858. 
  5. ^ Aortic Valve, Bicuspid. Last Updated: June 22, 2006 - Author: Edward J Bayne, MD
  6. ^ Surgical treatment of the aortic root dilatation - Concha Ruiz M.
  7. ^ Kaneko N, Kawagoe S, Hiroi M (1990). "Turner's syndrome--review of the literature with reference to a successful pregnancy outcome". Gynecol. Obstet. Invest. 29 (2): 81-7. PMID 2185981. 
  8. ^ Nielsen J, Sillesen I, Hansen KB (1979). "Fertility in women with Turner's syndrome. Case report and review of literature". British journal of obstetrics and gynaecology 86 (11): 833-5. PMID 508669. 
  9. ^ Hovatta O (1999). "Pregnancies in women with Turner's syndrome". Ann. Med. 31 (2): 106-10. PMID 10344582. 
  10. ^ a b c d Turner Syndrome Society of the United States. FAQ 6. What can be done?. Retrieved on 2007-05-11.

Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 198th day of the year (199th in leap years) in the Gregorian calendar. ... The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 131st day of the year (132nd in leap years) in the Gregorian calendar. ...

See also

A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... Not to be confused with XXY syndrome. ... Not to be confused with XYY syndrome or XXX syndrome. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... Dermatoglyphics (from ancient Greek derma = skin, glyph = carving) is the scientific study of fingerprints. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ...

Turner syndrome in fiction

  • Law & Order: Special Victims Unit "Clock" episode (season 8, episode 2)

External links

A renal cell carcinoma (chromophobe type) viewed on a hematoxylin & eosin stained slide Pathologist redirects here. ... A chromosome abnormality reflects an abnormality of chromosome number or structure. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... Trisomy 18 or Edwards Syndrome (named after John H. Edwards, who first described the syndrome in 1960) is a genetic disorder. ... Patau syndrome, also known as trisomy 13, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a non-disjunction of chromosomes during meiosis. ... Trisomy 9 is a chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. ... Warkany syndrome 2, also known as trisomy 8, is a chromosomal disease that has severe effects on the unborne child, as complete trisomy 8 is a frequent cause of early abortion. ... A coloboma (also part of the rare Cat Eye syndrome) is the term used to describe a hole in one of the structures of the eye, such as the lens, eyelid, iris, retina, choroid or optic disc. ... Deletion on a chromosome In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is missing. ... Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first described in 1961 by U. Wolf and K. Hirschhorn and their co-workers. ... Cri du chat syndrome (French for Cry or call of the cat), also called deletion 5p syndrome,5p minus or Le Jeune’s syndrome, is a rare genetic disorder due to a missing portion of chromosome 5. ... Angelman Syndrome (AS) is a rare neuro-genetic disorder named after a British paediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. ... Prader-Willi syndrome is a genetic disorder, in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. ... Miller-Dieker Syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration. ... Smith-Magenis Syndrome (SMS) is a chromosomal disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. ... 22q11. ... ‹ The template below (Expand) is being considered for deletion. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... Not to be confused with XYY syndrome or XXX syndrome. ... Not to be confused with XXY syndrome. ... Chromosomal translocation of the 4th and 20th chromosome. ... Philadelphia chromosome or Philadelphia translocation is a specific genetic, chromosomal abnormality that is associated with chronic myelogenous leukemia (CML) and involves an exchange of material between chromosomes 9 and 22. ... Burkitts lymphoma (or Burkitts tumor, or Malignant lymphoma, Burkitts type) is a cancer of the lymphatic system (in particular, B lymphocytes). ...


  Results from FactBites:
 
Turner syndrome - Wikipedia, the free encyclopedia (3326 words)
Turner syndrome is characterized by the presence of a single complete functioning sex-determining chromosome, the X chromosome, instead of two, either XX or XY.
Turner syndrome is often associated with persistent hypertension, sometimes even in childhood.
Women with Turner syndrome are at a moderately increased risk of developing type 1 diabetes in childhood and a substantially increased risk of developing type 2 diabetes by adult years.
Turner's Syndrome (477 words)
Turner Syndrome is caused by the complete or partial absence of one of the two X chromosomes usually found in women.
Turner Syndrome has most commonly been treated with estrogen therapy, as a means to encouraging the development of secondary sexual characteristics.
If a woman with Turner Syndrome has, and this is most likely, been under the care of a doctor, she also should have had a complete physical examination which would have identified these problems early on in her life.
  More results at FactBites »

 
 

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