Turner syndrome history and symptoms: Difference between revisions
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{{Turner syndrome}} | {{Turner syndrome}} | ||
{{CMG}}{{AE}}{{Akash}} | {{CMG}}{{AE}}{{Akash}} | ||
==Overview== | ==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<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>== | ==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>== | ||
*The natural history of Turner syndrome patients depends on the age of diagnosis . | *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. | **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 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. | **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. | **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. | *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=}} | **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. | **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> | *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> | ||
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center" | {| style="border: 0px; font-size: 90%; margin: 3px;" align="center" | ||
| Line 24: | Line 26: | ||
| style="padding: 5px 5px; background: #DCDCDC;" | Gonadal | | style="padding: 5px 5px; background: #DCDCDC;" | Gonadal | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Rudimentary uterus | *[[Rudimentary uterus]] | ||
*Streaked ovaries | *[[Streaked ovaries]] | ||
*Primary or secondary amenorrhea | *Primary or secondary [[amenorrhea]] | ||
*Infertility | *[[Infertility]] | ||
*Chronic estrogen deficiency and | *Chronic [[estrogen deficiency]] and | ||
*Androgen deficiency | *[[Androgen deficiency]] | ||
*Gonadoblastoma | *[[Gonadoblastoma]] | ||
*Dysgerminoma | *[[Dysgerminoma]] | ||
*Dyspareunia | *[[Dyspareunia]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Endocrine''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Endocrine''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Type 1 diabetes mellitus | *[[Type 1 diabetes mellitus]] | ||
*Type 2 diabetes mellitus | *[[Type 2 diabetes mellitus]] | ||
*Autoimmune thyroiditis – Hashimotos thyroiditis | *[[Autoimmune thyroiditis]] – [[Hashimotos thyroiditis]] | ||
*Short stature | *Short stature | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" |'''Gastrointestinal and hepatic''' | | style="padding: 5px 5px; background: #DCDCDC;" |'''Gastrointestinal and hepatic''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Celiac disease | *[[Celiac disease]] | ||
*Inflammatory bowel disease | *[[Inflammatory bowel disease]] | ||
*Feeding problems | *Feeding problems | ||
*Failure to thrive | *[[Failure to thrive]] | ||
*Regenerative nodular hyperplasia | *[[Regenerative nodular hyperplasia]] | ||
*Multiple focal nodular hyperplasia | *[[Multiple focal nodular hyperplasia]] | ||
*Non alcoholic liver disease | *[[Non alcoholic liver disease]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Ophthalmology''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Ophthalmology''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Red-green color blindness | *Red-green [[color blindness]] | ||
*Myopia | *[[Myopia]] | ||
*Prominent epicanthal folds | *Prominent [[epicanthal]] folds | ||
*Bilateral epicanthus | *Bilateral [[epicanthus]] | ||
*Strabismus | *[[Strabismus]] | ||
*Ptosis | *[[Ptosis]] | ||
*Amblyopia | *[[Amblyopia]] | ||
*Hypermetropia | *[[Hypermetropia]] | ||
*Cataract | *[[Cataract]] | ||
*Nystagmus | *[[Nystagmus]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Otorhinolayngology''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Otorhinolayngology''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Increased risk of otitis media | *Increased risk of [[otitis media]] | ||
*Conductive hearing loss | *Conductive hearing loss | ||
*Sensorineural hearing loss | *[[Sensorineural]] hearing loss | ||
*External ear deformities | *External ear deformities | ||
*Small eustachian tube | *Small [[eustachian tube]] | ||
*Palatal dysfunction | *[[Palatal dysfunction]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Neck''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Neck''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Pterygium colli | *[[Pterygium colli]] | ||
*Low posterior hair line | *Low posterior hair line | ||
*Loose skin on the nape of newborns | *Loose skin on the nape of newborns | ||
| Line 85: | Line 87: | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Skin, hair and nail''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Skin, hair and nail''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Lymphedema of the hands and feet | *[[Lymphedema]] of the hands and feet | ||
*Toenail cellulitis | *Toenail [[cellulitis]] | ||
*Vitiligo | *[[Vitiligo]] | ||
*Alopecia | *[[Alopecia]] | ||
*Nail hypoplasia | *Nail [[hypoplasia]] | ||
*Psoriasis | *[[Psoriasis]] | ||
*Pigmented melanocytic nevi | *[[Pigmented melanocytic nevi]] | ||
*Hyperconvex nails | *[[Hyperconvex nails]] | ||
*Premature wrinkling of facial skin | *Premature wrinkling of facial skin | ||
*Keloid formation | *[[Keloid]] formation | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Skeletal''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Skeletal''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Genu valgum | *[[Genu valgum]] | ||
*Cubitus valgus deformity | *[[Cubitus valgus]] deformity | ||
*Congenital hip dysplasia | *Congenital hip [[dysplasia]] | ||
*Short 4th metacarpal | *Short 4th [[metacarpal]] | ||
*Decreased bone mineral content | *Decreased bone mineral content | ||
*Increased risk of fractures secondary to decreased bone mineral density | *Increased risk of [[fractures]] secondary to decreased bone mineral density | ||
*Scoliosis | *[[Scoliosis]] | ||
*Kyphosis | *[[Kyphosis]] | ||
*Juvenile idiopathic arthritis | *[[Juvenile idiopathic arthritis]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Cardiac''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Cardiac''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Coarctation of aorta | *[[Coarctation of aorta]] | ||
*Ventricular septal defect | *[[Ventricular septal defect]] | ||
*Bicuspid aortic valve | *[[Bicuspid aortic valve]] | ||
*Aortic dissection | *[[Aortic dissection]] | ||
*Aortal dilation | *[[Aortal dilation]] | ||
*Aortic aneurysm | *[[Aortic aneurysm]] | ||
*Ischemic heart disease | *[[Ischemic heart disease]] | ||
*Atherosclerosis | *[[Atherosclerosis]] | ||
*Elongated transverse aortic arch | *Elongated [[transverse aortic arch]] | ||
*Pulmonary venous anomalies | *[[Pulmonary venous anomalies]] | ||
*Hypoplastic left heart syndrome | *[[Hypoplastic left heart syndrome]] | ||
*Infective endocarditis | *[[Infective endocarditis]] | ||
*Persistent left superior vena cava | *[[Persistent left superior vena cava]] | ||
*Patent ductus arteriosus | *[[Patent ductus arteriosus]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Renal''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Renal''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Horse shoe shaped kidney | *[[Horse shoe shaped kidney]] | ||
*Duplicate ureter | *[[Duplicate ureter]] | ||
*Renal hypoplasia | *[[Renal hypoplasia]] | ||
*Renal aplasia | *[[Renal aplasia]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC;" | '''Psychological''' | | style="padding: 5px 5px; background: #DCDCDC;" | '''Psychological''' | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
*Visuo spatial deficits | *[[Visuo spatial deficits]] | ||
* | *[[Hyperactivity]] | ||
*Poor facial recognition | *Poor facial recognition | ||
*Poor self-esteem | *Poor self-esteem | ||
| Line 142: | Line 144: | ||
*Madelung deformity is secondary to SHOX haploinsufficiency. It is the chondrodysplasia of the distal radius epiphysis, typical of Leri Weill syndrome. | *[[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. | *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. <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> | *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. | *Test of mental rotation, object assembly and facial recognition show significant deficits. | ||
*Non verbal skills are poor. | *Non verbal skills are poor. | ||
*Visuospatial skills would affect right left orientation. | *[[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. | *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. | *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> | *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> | ||
==References== | ==References== | ||
Latest revision as of 11:58, 15 September 2020
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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]
- 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. "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]
- 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
- ↑ 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.
- ↑ 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.