Turner syndrome overview: Difference between revisions
No edit summary |
Tags: mobile edit mobile web edit |
||
| (10 intermediate revisions by the same user not shown) | |||
| Line 7: | Line 7: | ||
==Historical Perspective== | ==Historical Perspective== | ||
Turner syndrome was first described in 1938 by Henry Turner when he noticed a triad of short stature, cubitus valgus and pterygium colli. Other scientists went to to discover the pathophysiology of the 45 XO karyotype and the presence of streaked ovaries. | [[Turner syndrome]] was first described in 1938 by Henry Turner when he noticed a triad of [[short stature]], [[cubitus valgus]] and [[pterygium colli]]. Other scientists went to to discover the [[pathophysiology]] of the [[45 XO karyotype]] and the presence of [[streaked ovaries]]. | ||
==Classification== | ==Classification== | ||
There is no established system for the classification of Turner syndrome. | There is no established system for the classification of [[Turner syndrome]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Humans have 46 [[chromosomes]]. Chromosomes contain all of your [[genes]] and [[DNA]], the building blocks of the body. Two of these chromosomes, the [[sex chromosomes]], determine if you become a [[boy]] or a [[girl]]. Loss the paternally or | Humans have 46 [[chromosomes]]. [[Chromosomes]] contain all of your [[genes]] and [[DNA]], the building blocks of the body. Two of these [[chromosomes]], the [[sex chromosomes]], determine if you become a [[boy]] or a [[girl]]. Loss the [[paternally]] or [[maternally]] derived [[X chromosome]] would lead to the class [[45 XO karyotype]]. Sometimes, an individual may have two [[cells]] lines with different [[genetic]] makeups. The percentage of this [[mosaicism]] is said to determine the severity of the [[phenotype]] in the [[patient]]. [[Structural abnormalities]] such as the formation of a [[ring chromosome]] or an [[isochromosome]] and other [[mechanisms]] such as [[lyonization]] or [[imprinting]] also play a role in the [[pathophysiology]] of [[Turner Syndrome]]. | ||
==Causes== | ==Causes== | ||
Humans have 46 [[chromosomes]]. Chromosomes contain all of your [[genes]] and [[DNA]], the building blocks of the body. Two of these chromosomes, the [[sex chromosomes]], determine if you become a [[boy]] or a [[girl]]. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a [[Y chromosome]] (written as XY). | Humans have 46 [[chromosomes]]. Chromosomes contain all of your [[genes]] and [[DNA]], the building blocks of the body. Two of these [[chromosomes]], the [[sex chromosomes]], determine if you become a [[boy]] or a [[girl]]. Females normally have two of the same [[sex chromosomes]], written as XX. Males have an X and a [[Y chromosome]] (written as XY). | ||
In [[Turner syndrome]], cells are missing all or part of an [[X chromosome]]. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one. | In [[Turner syndrome]], cells are missing all or part of an [[X chromosome]]. The condition only occurs in females. Most commonly, the female [[patient]] has only one [[X chromosome]]. Others may have two [[X chromosomes]], but one of them is incomplete. Sometimes, a female has some [[cells]] with two [[X chromosomes]], but other [[cells]] have only one. | ||
==Differentiating Turner syndrome from Other Diseases== | ==Differentiating Turner syndrome from Other Diseases== | ||
| Line 28: | Line 28: | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The incidence rate of Turner is 1 of 2500 live births. Turner Syndrome patients have a higher mortality rate compared to the general population. | The [[incidence rate]] of [[Turner]] is 1 of 2500 [[live births]]. [[Turner Syndrome]] [[patients]] have a higher [[mortality rate]] compared to the general population. | ||
==Risk Factors== | ==Risk Factors== | ||
There is currently no known cause for Turner syndrome, though there are several theories surrounding the subject. | There is currently no known cause for [[Turner syndrome]], though there are several theories surrounding the subject. | ||
==Screening== | ==Screening== | ||
Screening for complications of Turner syndrome starts as early as a prenatal visit. Abnormal maternal serum screening tests or an ultrasound detecting structural anomalies such shortned limbs, cystic hygromas, congenital heart defects or increased swelling of the hands or feet may point towards a diagnosis of Turner syndrome. As the years progress, screening involves a multidisciplinary combination of lab investigations (such as serum gonadotrophins,liver function tests, renal function tests, etc), referral to other departments (cardiology, endocrinology, ophthalmology, etc) and tools such as DEXA scans, X-rays, echocardiography, etc. | Screening for [[complications]] of [[Turner syndrome]] starts as early as a [[prenatal]] visit. Abnormal [[maternal serum]] screening tests or an [[ultrasound]] detecting [[structural anomalies]] such [[shortned limbs]], [[cystic hygromas]], [[congenital heart defects]] or increased [[swelling]] of the hands or feet may point towards a [[diagnosis]] of [[Turner syndrome]]. As the years progress, screening involves a [[multidisciplinary]] combination of [[lab investigations]] (such as [[serum gonadotrophins]],[[liver function tests]], [[renal function tests]], etc), referral to other departments ([[cardiology]], [[endocrinology]], [[ophthalmology]], etc) and tools such as [[DEXA scans]], [[X-rays]], [[echocardiography]], etc. | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
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 | 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]]. | ||
==Diagnosis== | ==Diagnosis== | ||
| Line 46: | Line 46: | ||
===Diagnostic Study of Choice=== | ===Diagnostic Study of Choice=== | ||
The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes. Examination of additional cells , polymerase chain reaction, fluorescent in situ hybridization, Southern blotting, restricted fragment length polymorphisms and new generation gene sequencing techniques may be employed following the interpretation of the initial karyotype. | The [[diagnostic study]] of choice for the [[diagnosis]] of [[Turner syndrome]] is [[karyotype analysis]] of 30 [[blood lymphocytes]]. Examination of additional [[cells]] , [[polymerase chain reaction]], [[fluorescent in situ hybridization]], [[Southern blotting]], [[restricted fragment length polymorphisms]] and new generation [[gene sequencing]] techniques may be employed following the interpretation of the initial [[karyotype]]. | ||
===History and Symptoms=== | ===History and Symptoms=== | ||
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 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. | ||
===Physical Examination=== | ===Physical Examination=== | ||
Physical examination may be suggestive of thyroid dysfunction, congenital heart defects, inflammatory bowel disease, characteristic skeletal deformities and body habitus/skin manifestations. | Physical examination may be suggestive of [[thyroid dysfunction]], [[congenital heart defects]], [[inflammatory bowel disease]], characteristic [[skeletal deformities]] and [[body habitus]]/[[skin manifestations]]. | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
Laboratory investigations serve as important screening tools for thyroid dysfunction, renal dysfunction, liver dysfunction, new onset diabetes mellitus,vitamin D deficiency and ovarian reserve. | [[Laboratory investigations]] serve as important screening tools for [[thyroid dysfunction]], [[renal dysfunction]], [[liver dysfunction]], [[new onset diabetes mellitus]],[[vitamin D deficiency]] and [[ovarian reserve]]. | ||
===Electrocardiogram=== | ===Electrocardiogram=== | ||
An electrocardiogram is not employed in the diagnosis of Turner syndrome. | An [[electrocardiogram]] is not employed in the [[diagnosis]] of [[Turner syndrome]]. | ||
===X-ray=== | ===X-ray=== | ||
A x-ray may be used to diagnose cardiac and skeletal abnormalities. | A [[x-ray]] may be used to diagnose [[cardiac]] and [[skeletal]] abnormalities. | ||
===Echocardiography and Ultrasound=== | ===Echocardiography and Ultrasound=== | ||
Prenatal ultrasounds my show a left-sided cardiac defect, renal anomalies, growth retardation, relatively short limbs, fetal edema, cystic hygroma, polyhydramnios and brachycephaly. Echocardiographies and renal ultrasounds help detect structural defects. | [[Prenatal ultrasounds]] my show a left-sided [[cardiac defect]], [[renal anomalies]], [[growth retardation]], relatively [[short limbs]], [[fetal edema]], [[cystic hygroma]], [[polyhydramnios]] and [[brachycephaly]]. [[Echocardiographies]] and [[renal ultrasounds]] help detect [[structural defects]]. | ||
===CT scan=== | ===CT scan=== | ||
Simple | [[Simple CT]]s or [[CT angiographies]] are helpful in screening/detecting the following [[cardiac]] abnormalities. | ||
===MRI=== | ===MRI=== | ||
Cardiac MRIs are helpful in screening/detecting the following cardiac abnormalities and functional MRIs have been used to study neural pathways responsible for poor visual spatial skills and executive function. | [[Cardiac MRIs]] are helpful in screening/detecting the following [[cardiac]] abnormalities and [[functional MRIs]] have been used to study [[neural pathways]] responsible for poor [[visual spatial skills]] and executive function. | ||
===Other Imaging Findings=== | ===Other Imaging Findings=== | ||
There are no other imaging findings associated with Turner syndrome. | There are no other imaging findings associated with [[Turner syndrome]]. | ||
===Other Diagnostic Studies=== | ===Other Diagnostic Studies=== | ||
The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes. Findings may include the classic 45 XO karyotype, mosaicism and structural anomalies like isochromosomes or ring chromosomes. | The diagnostic study of choice for the diagnosis of [[Turner syndrome]] is [[karyotype]] analysis of [[30 blood lymphocytes]]. Findings may include the classic [[45 XO karyotype]], [[mosaicism]] and [[structural anomalies]] like [[isochromosomes]] or [[ring chromosomes]]. | ||
==Treatment== | ==Treatment== | ||
| Line 92: | Line 92: | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
Medical therapies include growth hormone, estrogen replacement therapy, oxandrolone (if growth hormone achieves suboptimal height), vitamin D supplementation, oral hypoglycemic agents and anti-hypertensives. | [[Medical therapies]] include [[growth hormone]], [[estrogen replacement therapy]], [[oxandrolone]] (if [[growth hormone]] achieves suboptimal height), [[vitamin D]] supplementation, [[oral hypoglycemic agents]] and [[anti-hypertensives]]. | ||
=== Interventions === | === Interventions === | ||
Psycosocial interventions aimed at treating visual spatial and executive function deficits along with in vitro fertilization are the interventions commonly used in Turner syndrome. | [[Psycosocial interventions]] aimed at treating ][visual spatial and executive function]] deficits along with [[in vitro fertilization]] (for [[infertility]]) are the interventions commonly used in [[Turner syndrome]]. | ||
===Surgery=== | ===Surgery=== | ||
Surgery is indicated for craniofacial | [[Surgery]] is indicated for [[craniofacial anomalies]], to decrease the risk of [[aortic dissection]] and for [[congenital pterygium colli]]. | ||
===Primary Prevention=== | ===Primary Prevention=== | ||
There are no established measures for the primary prevention of Turner syndrome. | There are no established measures for the [[primary prevention]] of [[Turner syndrome]]. | ||
===Secondary Prevention=== | ===Secondary Prevention=== | ||
There are no established measures for the secondary prevention of Turner Syndrome. Secondary prevention is aimed at preventing complications of Turner syndrome. This involves frequent screening of complications. | There are no established measures for the [[secondary prevention]] of [[Turner Syndrome]]. [[Secondary prevention]] is aimed at preventing complications of [[Turner syndrome]]. This involves frequent screening of complications. | ||
==References== | ==References== | ||
Latest revision as of 18:24, 27 August 2020
|
Turner syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Turner syndrome overview On the Web |
|
American Roentgen Ray Society Images of Turner syndrome overview |
|
Risk calculators and risk factors for Turner syndrome overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]
Overview
Historical Perspective
Turner syndrome was first described in 1938 by Henry Turner when he noticed a triad of short stature, cubitus valgus and pterygium colli. Other scientists went to to discover the pathophysiology of the 45 XO karyotype and the presence of streaked ovaries.
Classification
There is no established system for the classification of Turner syndrome.
Pathophysiology
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Loss the paternally or maternally derived X chromosome would lead to the class 45 XO karyotype. Sometimes, an individual may have two cells lines with different genetic makeups. The percentage of this mosaicism is said to determine the severity of the phenotype in the patient. Structural abnormalities such as the formation of a ring chromosome or an isochromosome and other mechanisms such as lyonization or imprinting also play a role in the pathophysiology of Turner Syndrome.
Causes
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY). In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
Differentiating Turner syndrome from Other Diseases
Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, delayed puberty, and chromosomal abnormalities. Chromosomal abnormality is Noonan's syndrome.
Epidemiology and Demographics
The incidence rate of Turner is 1 of 2500 live births. Turner Syndrome patients have a higher mortality rate compared to the general population.
Risk Factors
There is currently no known cause for Turner syndrome, though there are several theories surrounding the subject.
Screening
Screening for complications of Turner syndrome starts as early as a prenatal visit. Abnormal maternal serum screening tests or an ultrasound detecting structural anomalies such shortned limbs, cystic hygromas, congenital heart defects or increased swelling of the hands or feet may point towards a diagnosis of Turner syndrome. As the years progress, screening involves a multidisciplinary combination of lab investigations (such as serum gonadotrophins,liver function tests, renal function tests, etc), referral to other departments (cardiology, endocrinology, ophthalmology, etc) and tools such as DEXA scans, X-rays, echocardiography, etc.
Natural History, Complications, and Prognosis
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.
Diagnosis
Diagnostic Study of Choice
The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes. Examination of additional cells , polymerase chain reaction, fluorescent in situ hybridization, Southern blotting, restricted fragment length polymorphisms and new generation gene sequencing techniques may be employed following the interpretation of the initial karyotype.
History and Symptoms
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.
Physical Examination
Physical examination may be suggestive of thyroid dysfunction, congenital heart defects, inflammatory bowel disease, characteristic skeletal deformities and body habitus/skin manifestations.
Laboratory Findings
Laboratory investigations serve as important screening tools for thyroid dysfunction, renal dysfunction, liver dysfunction, new onset diabetes mellitus,vitamin D deficiency and ovarian reserve.
Electrocardiogram
An electrocardiogram is not employed in the diagnosis of Turner syndrome.
X-ray
A x-ray may be used to diagnose cardiac and skeletal abnormalities.
Echocardiography and Ultrasound
Prenatal ultrasounds my show a left-sided cardiac defect, renal anomalies, growth retardation, relatively short limbs, fetal edema, cystic hygroma, polyhydramnios and brachycephaly. Echocardiographies and renal ultrasounds help detect structural defects.
CT scan
Simple CTs or CT angiographies are helpful in screening/detecting the following cardiac abnormalities.
MRI
Cardiac MRIs are helpful in screening/detecting the following cardiac abnormalities and functional MRIs have been used to study neural pathways responsible for poor visual spatial skills and executive function.
Other Imaging Findings
There are no other imaging findings associated with Turner syndrome.
Other Diagnostic Studies
The diagnostic study of choice for the diagnosis of Turner syndrome is karyotype analysis of 30 blood lymphocytes. Findings may include the classic 45 XO karyotype, mosaicism and structural anomalies like isochromosomes or ring chromosomes.
Treatment
Medical Therapy
Medical therapies include growth hormone, estrogen replacement therapy, oxandrolone (if growth hormone achieves suboptimal height), vitamin D supplementation, oral hypoglycemic agents and anti-hypertensives.
Interventions
Psycosocial interventions aimed at treating ][visual spatial and executive function]] deficits along with in vitro fertilization (for infertility) are the interventions commonly used in Turner syndrome.
Surgery
Surgery is indicated for craniofacial anomalies, to decrease the risk of aortic dissection and for congenital pterygium colli.
Primary Prevention
There are no established measures for the primary prevention of Turner syndrome.
Secondary Prevention
There are no established measures for the secondary prevention of Turner Syndrome. Secondary prevention is aimed at preventing complications of Turner syndrome. This involves frequent screening of complications.
References