Turner syndrome history and symptoms: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
 
(6 intermediate revisions by 3 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Turner syndrome}}
{{Turner syndrome}}
{{CMG}}
{{CMG}}{{AE}}{{Akash}}
 
==Overview==
==Overview==
==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
* Rudimentary ovaries Gonadal Streak (underdeveloped gonadal structures)
* [[Amenorrhea]], or the absence of a menstrual period
* Increased weight, obesity
* Shield shaped thorax of heart
* Shortened [[metacarpal|metacarpal IV]] (of hand)
* Small fingernails
* Characteristic facial features
* Webbing of the neck ([[webbed neck]])
* Coarctation of the [[aorta]]
* Poor Breast Development
* [[Horseshoe kidney]]
* Visual Impairments [[sclera]], [[cornea]], [[Glaucoma]], etc.
* Ear infections and hearing loss.
Other symptoms may include a small lower jaw (micrognathia), [[cubitus valgus]] (turned-out elbows), soft upturned nails, palmar crease and [[Ptosis (eyelid)|drooping eyelids]]. Less common are pigmented [[mole (skin marking)|mole]]s, 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.
===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.
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.
====Etiology====
According to Sybert, 1998 there is inadequate data to allow conclusions regarding [[phenotype]]-[[karyotype]] correlations in regard to cardiovascular malformations in Turner syndrome because the number of individuals with the less common karyotype groups that has been studied 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.
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.
==== 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.
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.
'''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,<ref>[http://www.emedicine.com/ped/topic2486.htm Aortic Valve, Bicuspid. Last Updated: June 22, 2006 - Author: Edward J Bayne, MD]</ref> which may lead to a progressive valvular dysfunction as evidenced by aortic stenosis or regurgitation (Elsheikh et al, 2002).


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.
Natural history of the patient would depend on the age of the diagnoses and what complications have developed by the time the patients presents to the physician. [[Congenital lymphedema]] may take several years to decrease. The patient experiences low self esteem due to their short stature, decreased [[visual spatial functioning]], [[hyperactivity]], poor facial recognition and preference for [[social isolation]]. As soon as the patient is capable of understanding, counseling regaridng the risks and benefits of [[Turner syndrome]] should be explained.
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”).
==Natural History and Symptoms<ref name="pmid6964261">{{cite journal| author=Adhikary HP| title=Ocular manifestations of Turner's syndrome. | journal=Trans Ophthalmol Soc U K | year= 1981 | volume= 101 (Pt 4) | issue=  | pages= 395-6 | pmid=6964261 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=6964261 }} </ref><ref name="pmid16929365">{{cite journal| author=Gravholt CH| title=Clinical practice in Turner syndrome. | journal=Nat Clin Pract Endocrinol Metab | year= 2005 | volume= 1 | issue= 1 | pages= 41-52 | pmid=16929365 | doi=10.1038/ncpendmet0024 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16929365  }} </ref>==
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.


'''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.
*The natural history of [[Turner syndrome]] patients depends on the age of diagnosis .  
Strangely, Turner syndrome seems to be associated with quite unusual forms of partial anomalous venous drainage.
**The age of diagnosis would in turn determine when they present to the physician.  
(Mazanti et al, 1998 and Prandstraller et al, 1999)
*A newborn would typically present with [[lymphedema]] of the hands and feet, [[pterygium colli]] (webbed neck), low posterior hairline, [[cubitus valgus]], [[Madelung deformity]] and [[cyanosis]] secondary to [[congenital heart disease]]. <ref name="pmid17562588">{{cite journal| author=Kesler SR| title=Turner syndrome. | journal=Child Adolesc Psychiatr Clin N Am | year= 2007 | volume= 16 | issue= 3 | pages= 709-22 | pmid=17562588 | doi=10.1016/j.chc.2007.02.004 | pmc=2023872 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17562588  }} </ref>
**A complete physical examination is necessary.
**Key history findings such as poor feeding (secondary to weak sucking reflexes), irritability, lower extremity coldness ([[claudication]]) and [[diaphoresis]] should point to [[coarctation of aorta]] or [[heart failure]].
*Children around 2 years of age begin to dip below the 5th percentile and exhibit weight loss due to feeding difficulties.
**This progresses to complaints of hearing loss, behavioral difficulties, low self esteem due to short stature and [[obesity]]. {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK554621/ |title=Turner Syndrome - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}
**Visuospatial deficits would affect the child’s performance in school.  
*As soon as the patient is capable of understanding, the physician should actively counsel explaining the risks, benefits and process of transitioning to adult care. <ref name="pmid12612263">{{cite journal| author=Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology| title=Health supervision for children with Turner syndrome. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 3 | pages= 692-702 | pmid=12612263 | doi=10.1542/peds.111.3.692 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12612263  }} </ref>


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).
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
|+
! style="background: #4479BA; width: 120px;" | {{fontcolor|#FFF|System}}
! style="background: #4479BA; width: 550px;" | {{fontcolor|#FFF|Clinical features and Complications}}
|-
| style="padding: 5px 5px; background: #DCDCDC;" | Gonadal
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Rudimentary uterus]]
*[[Streaked ovaries]]
*Primary or secondary [[amenorrhea]]
*[[Infertility]]
*Chronic [[estrogen deficiency]] and
*[[Androgen deficiency]]
*[[Gonadoblastoma]]
*[[Dysgerminoma]]
*[[Dyspareunia]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Endocrine'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Type 1 diabetes mellitus]]
*[[Type 2 diabetes mellitus]]
*[[Autoimmune thyroiditis]] – [[Hashimotos thyroiditis]]
*Short stature
|-
| style="padding: 5px 5px; background: #DCDCDC;" |'''Gastrointestinal and hepatic'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Celiac disease]]
*[[Inflammatory bowel disease]]
*Feeding problems
*[[Failure to thrive]]
*[[Regenerative nodular hyperplasia]]
*[[Multiple focal nodular hyperplasia]]
*[[Non alcoholic liver disease]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Ophthalmology'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Red-green [[color blindness]]
*[[Myopia]]
*Prominent [[epicanthal]] folds
*Bilateral [[epicanthus]]
*[[Strabismus]]
*[[Ptosis]]
*[[Amblyopia]]
*[[Hypermetropia]]
*[[Cataract]]
*[[Nystagmus]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Otorhinolayngology'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Increased risk of [[otitis media]]
*Conductive hearing loss
*[[Sensorineural]] hearing loss
*External ear deformities
*Small [[eustachian tube]]
*[[Palatal dysfunction]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Neck'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Pterygium colli]]
*Low posterior hair line
*Loose skin on the nape of newborns
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Chest'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*Wide shield shaped chest with broadly spaced inverted nipples
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Skin, hair and nail'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Lymphedema]] of the hands and feet
*Toenail [[cellulitis]]
*[[Vitiligo]]
*[[Alopecia]]
*Nail [[hypoplasia]]
*[[Psoriasis]]
*[[Pigmented melanocytic nevi]]
*[[Hyperconvex nails]]
*Premature wrinkling of facial skin
*[[Keloid]] formation
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Skeletal'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Genu valgum]]
*[[Cubitus valgus]] deformity
*Congenital hip [[dysplasia]]
*Short 4th [[metacarpal]]
*Decreased bone mineral content
*Increased risk of [[fractures]] secondary to decreased bone mineral density
*[[Scoliosis]]
*[[Kyphosis]]
*[[Juvenile idiopathic arthritis]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Cardiac'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Coarctation of aorta]]
*[[Ventricular septal defect]]
*[[Bicuspid aortic valve]]
*[[Aortic dissection]]
*[[Aortal dilation]]
*[[Aortic aneurysm]]
*[[Ischemic heart disease]]
*[[Atherosclerosis]]
*Elongated [[transverse aortic arch]]
*[[Pulmonary venous anomalies]]
*[[Hypoplastic left heart syndrome]]
*[[Infective endocarditis]]
*[[Persistent left superior vena cava]]
*[[Patent ductus arteriosus]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Renal'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Horse shoe shaped kidney]]
*[[Duplicate ureter]]
*[[Renal hypoplasia]]
*[[Renal aplasia]]
|-
| style="padding: 5px 5px; background: #DCDCDC;" | '''Psychological'''
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Visuo spatial deficits]]
*[[Hyperactivity]]
*Poor facial recognition
*Poor self-esteem
|-
|}


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.


==== Aortic dilation, dissection and rupture ====
*[[Madelung deformity]] is secondary to [[SHOX]] [[haploinsufficiency]]. It is the [[chondrodysplasia]] of the [[distal radius epiphysis]], typical of [[Leri Weill syndrome]].
 
*Patients have normal global intellectual functioning.  
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).
*Studies have shown that [[Turner syndrome]] patient exhibit superior language and comprehension skills when compared to individuals their age. They understand less common words better and sometimes have better receptive vocabulary skills. <ref name="pmid17562588">{{cite journal| author=Kesler SR| title=Turner syndrome. | journal=Child Adolesc Psychiatr Clin N Am | year= 2007 | volume= 16 | issue= 3 | pages= 709-22 | pmid=17562588 | doi=10.1016/j.chc.2007.02.004 | pmc=2023872 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17562588  }} </ref>
 
*Test of mental rotation, object assembly and facial recognition show significant deficits.
* 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.
*Non verbal skills are poor.  
* 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.
*[[Visuospatial]] skills would affect right left orientation.
 
*Executive function skill deficits would include impairments in planning, organization, attention, concentration, processing speed and problem solving ability.
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.
*Patients are impulsive and [[hyperactive]]. They have sleepless night and have problems maintaining relationships. They eventually become socially isolated. This affects their self-esteem.
 
*Associated conditions include [[autism]], [[attention deficit hyperactive disorder]], [[anxiety]] and [[depression]].<ref name="pmid12612263">{{cite journal| author=Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology| title=Health supervision for children with Turner syndrome. | journal=Pediatrics | year= 2003 | volume= 111 | issue= 3 | pages= 692-702 | pmid=12612263 | doi=10.1542/peds.111.3.692 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12612263  }} </ref>
=====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.<br />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.<ref>[http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17451098&ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum Surgical treatment of the aortic root dilatation - Concha Ruiz M.]</ref>
 
Aortic dissection affects 1% to 2% of patients with Turner syndrome.<br />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).
=====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.<br />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.<br />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.<br />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.<br />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).<br />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).<br />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.<br />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).<br />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.
 
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 fracture]]s.
 
=== Kidney ===
 
Approximately one-third of all women with Turner syndrome have one of three kidney abnormalities:
 
# A single, horseshoe-shaped kidney on one side of the body, and no kidney on the other side.
# An abnormal urine-collecting system.
# 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]].
 
=== 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.
 
=== 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 [[Diabetes mellitus type 2|type 2 diabetes]] by adult years.  The risk of developing type 2 diabetes can be substantially reduced by maintaining a normal weight.
 
=== 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.
 
=== Reproductive ===
 
Women with Turner syndrome are almost universally [[infertility|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.<ref name="pmid2185981">{{cite journal |author=Kaneko N, Kawagoe S, Hiroi M |title=Turner's syndrome--review of the literature with reference to a successful pregnancy outcome |journal=Gynecol. Obstet. Invest. |volume=29 |issue=2 |pages=81-7 |year=1990 |pmid=2185981 |doi=}}</ref> Even when such pregnancies do occur, there is a higher than average risk of [[miscarriage]] or [[birth defect]]s, including Turner Syndrome or Down Syndrome.<ref name="pmid508669">{{cite journal |author=Nielsen J, Sillesen I, Hansen KB |title=Fertility in women with Turner's syndrome. Case report and review of literature |journal=British journal of obstetrics and gynaecology |volume=86 |issue=11 |pages=833-5 |year=1979 |pmid=508669 |doi=}}</ref>  Some women with Turner syndrome who are unable to conceive without medical intervention may be able to use [[IVF]] or other fertility treatments.<ref name="pmid10344582">{{cite journal |author=Hovatta O |title=Pregnancies in women with Turner's syndrome |journal=Ann. Med. |volume=31 |issue=2 |pages=106-10 |year=1999 |pmid=10344582 |doi=}}</ref>
 
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.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Needs content]]


[[Category:Medicine]]
[[Category:Up-To-Date]]​
[[Category:Disease]]
[[Category:Disease]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Syndromes]]
[[Category:Syndromes]]
[[Category:Mature chapter]]
 


{{WikiDoc Help Menu}}
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}
{{WikiDoc Sources}}

Latest revision as of 11:58, 15 September 2020

Turner syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Turner syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

Echocardiography and Ultrasound

CT

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Turner syndrome history and symptoms On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Turner syndrome history and symptoms

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Turner syndrome history and symptoms

CDC on Turner syndrome history and symptoms

Turner syndrome history and symptoms in the news

Blogs on Turner syndrome history and symptoms

Directions to Hospitals Treating Turner syndrome

Risk calculators and risk factors for Turner syndrome history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Overview

Natural history of the patient would depend on the age of the diagnoses and what complications have developed by the time the patients presents to the physician. Congenital lymphedema may take several years to decrease. The patient experiences low self esteem due to their short stature, decreased visual spatial functioning, hyperactivity, poor facial recognition and preference for social isolation. As soon as the patient is capable of understanding, counseling regaridng the risks and benefits of Turner syndrome should be explained.

Natural History and Symptoms[1][2]

  • The natural history of Turner syndrome patients depends on the age of diagnosis .
    • The age of diagnosis would in turn determine when they present to the physician.
  • A newborn would typically present with lymphedema of the hands and feet, pterygium colli (webbed neck), low posterior hairline, cubitus valgus, Madelung deformity and cyanosis secondary to congenital heart disease. [3]
  • Children around 2 years of age begin to dip below the 5th percentile and exhibit weight loss due to feeding difficulties.
    • This progresses to complaints of hearing loss, behavioral difficulties, low self esteem due to short stature and obesity. "Turner Syndrome - StatPearls - NCBI Bookshelf".
    • Visuospatial deficits would affect the child’s performance in school.
  • As soon as the patient is capable of understanding, the physician should actively counsel explaining the risks, benefits and process of transitioning to adult care. [4]
System Clinical features and Complications
Gonadal
Endocrine
Gastrointestinal and hepatic
Ophthalmology
Otorhinolayngology
Neck
Chest
  • Wide shield shaped chest with broadly spaced inverted nipples
Skin, hair and nail
Skeletal
Cardiac
Renal
Psychological


  • Madelung deformity is secondary to SHOX haploinsufficiency. It is the chondrodysplasia of the distal radius epiphysis, typical of Leri Weill syndrome.
  • Patients have normal global intellectual functioning.
  • Studies have shown that Turner syndrome patient exhibit superior language and comprehension skills when compared to individuals their age. They understand less common words better and sometimes have better receptive vocabulary skills. [3]
  • Test of mental rotation, object assembly and facial recognition show significant deficits.
  • Non verbal skills are poor.
  • Visuospatial skills would affect right left orientation.
  • Executive function skill deficits would include impairments in planning, organization, attention, concentration, processing speed and problem solving ability.
  • Patients are impulsive and hyperactive. They have sleepless night and have problems maintaining relationships. They eventually become socially isolated. This affects their self-esteem.
  • Associated conditions include autism, attention deficit hyperactive disorder, anxiety and depression.[4]

References

  1. ↑ Adhikary HP (1981). "Ocular manifestations of Turner's syndrome". Trans Ophthalmol Soc U K. 101 (Pt 4): 395–6. PMID 6964261.
  2. ↑ Gravholt CH (2005). "Clinical practice in Turner syndrome". Nat Clin Pract Endocrinol Metab. 1 (1): 41–52. doi:10.1038/ncpendmet0024. PMID 16929365.
  3. ↑ 3.0 3.1 Kesler SR (2007). "Turner syndrome". Child Adolesc Psychiatr Clin N Am. 16 (3): 709–22. doi:10.1016/j.chc.2007.02.004. PMC 2023872. PMID 17562588.
  4. ↑ 4.0 4.1 Frías JL, Davenport ML, Committee on Genetics and 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.

​


Template:WikiDoc Sources

Retrieved from "https://www.wikidoc.org/index.php?title=Turner_syndrome_history_and_symptoms&oldid=1662554"