Turner syndrome natural history, complications and prognosis: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(8 intermediate revisions by the same user not shown)
Line 2: Line 2:
{{Turner syndrome}}
{{Turner syndrome}}
{{CMG}}{{AE}}{{Akash}}
{{CMG}}{{AE}}{{Akash}}
==Overview==
==Overview==
==Natural History==
==Complications==
*[[Arthritis]]
*[[Cataracts]]
*[[Diabetes]]
*[[Hashimoto's thyroiditis]]
*[[Heart defects]]
*[[High blood pressure]]
*[[Kidney]] problems
*[[Middle ear]] infections
*[[Obesity]]
*[[Scoliosis]] (in adolescence)
==Prognosis==
Those with [[Turner syndrome]] can have a normal life when carefully monitored by their doctor.


While most of the symptoms of Turner syndrome are harmless, some can lead to significant medical problems.
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 regarding the risks and benefits of [[Turner syndrome]] should be explained. When compared to the general population, [[Turner syndrome]] patients have an increased [[mortality rate]].  
==Overview==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].


OR
==Natural History and Complications<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>==


Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
*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]]. <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>


OR
{| 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
|-
|}


Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
===Special Notes <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>===  
==Natural History, Complications, and Prognosis==


===Natural History===
*[[Madelung deformity]] is secondary to [[SHOX]] [[haploinsufficiency]]. It is the [[chondrodysplasia]] of the [[distal radius epiphysis]], typical of [[Leri Weill syndrome]].
*The symptoms of (disease name) usually develop in the first/ second/ third decade of life, and start with symptoms such as ___.  
*Patients have normal global intellectual functioning.
*The symptoms of (disease name) typically develop ___ years after exposure to ___.  
*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.
*If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 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]].


===Complications===
==Prognosis==
*Common complications of [disease name] include:
**[Complication 1]
**[Complication 2]
**[Complication 3]


===Prognosis===
*When compared to the general population, [[Turner syndrome]] patients have an increased [[mortality]]. <ref name="pmid15371580">{{cite journal| author=Sybert VP, McCauley E| title=Turner's syndrome. | journal=N Engl J Med | year= 2004 | volume= 351 | issue= 12 | pages= 1227-38 | pmid=15371580 | doi=10.1056/NEJMra030360 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15371580  }} </ref>
*Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [--]%.
*[[Atherosclerotic]] complications causing [[stroke]] and [[coronary artery disease]] and [[aortic dissection]] are leading causes of [[mortality]].  
*Depending on the extent of the [tumor/disease progression] at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor/good/excellent.
*However, some [[Turner syndrome]] patients are satisfied with their lifestyle. {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK554621/ |title=Turner Syndrome - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}
*The presence of [characteristic of disease] is associated with a particularly [good/poor] prognosis among patients with [disease/malignancy].
*Complications like gonadoblastoma have a good prognosis if detected and removed early. <ref name="pmid20081420">{{cite journal| author=Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee| title=Laboratory guideline for Turner syndrome. | journal=Genet Med | year= 2010 | volume= 12 | issue= 1 | pages= 52-5 | pmid=20081420 | doi=10.1097/GIM.0b013e3181c684b2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20081420  }} </ref>
*[Subtype of disease/malignancy] is associated with the most favorable prognosis.
*The prognosis varies with the [characteristic] of tumor; [subtype of disease/malignancy] have the most favorable prognosis.


==References==
==References==

Latest revision as of 10:55, 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 natural history, complications and prognosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Turner syndrome natural history, complications and prognosis

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 natural history, complications and prognosis

CDC on Turner syndrome natural history, complications and prognosis

Turner syndrome natural history, complications and prognosis in the news

Blogs on Turner syndrome natural history, complications and prognosis

Directions to Hospitals Treating Turner syndrome

Risk calculators and risk factors for Turner syndrome natural history, complications and prognosis

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 regarding the risks and benefits of Turner syndrome should be explained. When compared to the general population, Turner syndrome patients have an increased mortality rate.

Natural History and Complications[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

Special Notes [3]

Prognosis

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. ↑ 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.
  5. ↑ Sybert VP, McCauley E (2004). "Turner's syndrome". N Engl J Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
  6. ↑ Wolff DJ, Van Dyke DL, Powell CM, Working Group of the ACMG Laboratory Quality Assurance Committee (2010). "Laboratory guideline for Turner syndrome". Genet Med. 12 (1): 52–5. doi:10.1097/GIM.0b013e3181c684b2. PMID 20081420.

​


Template:WikiDoc Sources

Retrieved from "https://www.wikidoc.org/index.php?title=Turner_syndrome_natural_history,_complications_and_prognosis&oldid=1662544"