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

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Revision as of 19:02, 17 August 2020

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 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, cyanosis secondary to congenital heart disease. ^[3]
- 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 a 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. "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.


System	Clinical features and Complications
Gonadal	Rudimentary uterus Streaked ovaries Primary or secondary amenorrhea Infertility Chronic estrogen deficiency and Androgen deficiency Gonadoblastoma Dysgerminoma Dyspareunia
Endocrine	Type 1 diabetes mellitus Type 2 diabetes mellitus Autoimmune thyroiditis – Hashimotos thyroiditis Short stature
Gastrointestinal and hepatic	Celiac disease Inflammatory bowel disease Feeding problems Failure to thrive Regenerative nodular hyperplasia Multiple focal nodular hyperplasia Non alcoholic liver disease
Ophthalmology	Red-green color blindness Myopia Prominent epicanthal folds Bilateral epicanthus Strabismus Ptosis Amblyopia Hypermetropia Cataract Nystagmus
Otorhinolayngology	Increased risk of otitis media Conductive hearing loss Sensorineural hearing loss External ear deformities Small eustachian tube Palatal dysfunction
Neck	Pterygium colli Low posterior hair line Loose skin on the nape of newborns
Chest	Wide shield shaped chest with broadly spaced inverted nipples
Skin, hair and nail	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
Skeletal	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
Cardiac	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
Renal	Horse shoe shaped kidney Duplicate ureter Renal hypoplasia Renal aplasia
Psychological	Visuo spatial deficits Hyperractivity Poor facial recognition Poor self-esteem

Special Notes ^[3]

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.
Test of mental rotation, object assembly and facial recognition show significant deficits.
Non verbal skills are poor.
Visuospatial skills would may 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 and become socially isolated. This affects their self-esteem.
Associated conditions include autism, attention deficit hyperactive disorder, anxiety and depression.

Prognosis

When compared to the general population, Turner syndrome patients have an increased mortality. ^[4]
Atherosclerotic complications causing stroke and coronary artery disease, aortic dissection are leading causes of mortalities.
However, some Turner syndrome patients are satisfied with their lifestyle. "Turner Syndrome - StatPearls - NCBI Bookshelf".
Complications like gonadoblastoma have a good prognosis if detected and removed early. ^[5]

References

↑ Adhikary HP (1981). "Ocular manifestations of Turner's syndrome". Trans Ophthalmol Soc U K. 101 (Pt 4): 395–6. PMID 6964261.
↑ Gravholt CH (2005). "Clinical practice in Turner syndrome". Nat Clin Pract Endocrinol Metab. 1 (1): 41–52. doi:10.1038/ncpendmet0024. PMID 16929365.
↑ ^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.
↑ Sybert VP, McCauley E (2004). "Turner's syndrome". N Engl J Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
↑ 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

[pmid6964261-1] Adhikary HP (1981). "Ocular manifestations of Turner's syndrome". Trans Ophthalmol Soc U K. 101 (Pt 4): 395–6. PMID 6964261.

[pmid16929365-2] Gravholt CH (2005). "Clinical practice in Turner syndrome". Nat Clin Pract Endocrinol Metab. 1 (1): 41–52. doi:10.1038/ncpendmet0024. PMID 16929365.

[pmid17562588-3] 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.

[pmid15371580-4] Sybert VP, McCauley E (2004). "Turner's syndrome". N Engl J Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.

[pmid20081420-5] 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.

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[2]

[3]

[4]

[5]

@@ Line 3: / Line 3: @@
 {{CMG}}{{AE}}{{Akash}}
 ==Overview==
-==Natural History==
-==Complications==
-*[[Arthritis]]
+==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>==
-*[[Cataracts]]
-*[[Diabetes]]
-*[[Hashimoto's thyroiditis]]
-*[[Heart defects]]
-*[[High blood pressure]]
-*[[Kidney]] problems
-*[[Middle ear]] infections
-*[[Obesity]]
-*[[Scoliosis]] (in adolescence)
-==Prognosis==
+*The natural history of Turner syndrome patients depends on the age of diagnosis .
-Those with [[Turner syndrome]] can have a normal life when carefully monitored by their doctor.
+**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, 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 a 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.
-While most of the symptoms of Turner syndrome are harmless, some can lead to significant medical problems.
+{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
-==Overview==
+|+
-If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
+! 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
+*Hyperractivity
+*Poor facial recognition
+*Poor self-esteem
+|-
+|}
-OR
+===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>===
-Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
+*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.
+*Test of mental rotation, object assembly and facial recognition show significant deficits.
+*Non verbal skills are poor.
+*Visuospatial skills would may 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 and become socially isolated. This affects their self-esteem.
+*Associated conditions include autism, attention deficit hyperactive disorder, anxiety and depression.
-OR
+==Prognosis==
-Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
-==Natural History, Complications, and Prognosis==
-===Natural History===
-*The symptoms of (disease name) usually develop in the first/ second/ third decade of life, and start with symptoms such as ___.
-*The symptoms of (disease name) typically develop ___ years after exposure to ___.
-*If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
-===Complications===
-*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, aortic dissection are leading causes of mortalities.
-*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==

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

Revision as of 19:02, 17 August 2020

Overview

Natural History and Complications[1][2]

Special Notes [3]

Prognosis

References

Navigation menu

Natural History and Complications^[1]^[2]

Special Notes ^[3]