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__NOTOC__
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{{Turner syndrome}}
{{Turner syndrome}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}}{{Akash}}
 
== Overview ==
== Overview ==
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]].


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==


=== Study of choice ===
*The diagnostic study of choice for the diagnosis of [[Turner syndrome]] is [[karyotype]] analysis of 30 blood [[lymphocytes]].
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
*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]].  
 
OR
 
The following result of [gold standard test] is confirmatory of [disease name]:
* [Result 1]
* [Result 2]
 
OR
 
[Name of the investigation] must be performed when:
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
 
OR
 
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
 
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].


OR
===Prenatal Visit – Ultrasound + karyotype analysis===


There is no single diagnostic study of choice for the diagnosis of [disease name].  
*[[Turner syndrome]] may be diagnosed or suspected [[prenatally]] because of an [[ultrasonography]] showing a left-sided [[cardiac]] defect, [[renal]] anomalies, growth retardation, relatively short limbs, [[fetal edema]] , [[cystic hygroma]], [[polyhydramnios]], [[brachycephaly]]. <ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of [[Turner syndrome]]. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338  }} </ref>
*A [[Turner syndrome]] [[karyotype]] may be discovered fortuitously when [[fetal]] [[chromosome]] analysis is performed for reasons not associated with an increased incidence of [[Turner syndrome]], such as advanced maternal age.
*Noninvasive cell free [[fetal]] DNA has a low positive predictive value and is not recommended during a [[prenatal]] visit.
*A maternal serum screening with multiple markers (decreased maternal serum [[alpha fetoprotein]], decreased [[unconjugated estriol]], increased [[human chorionic gonadotropin]], increased  [[inhibin B]]) may suggest [[Turner syndrome]].
*If an abnormality associated with [[Turner syndrome]] is diagnosed by [[ultrasonography]] or if multiple marker screening is positive, the recommended follow-up is [[fetal]] [[karyotyping]] using [[amniotic fluid]] [[cells]] obtained by [[amniocentesis]] or [[fetal]] blood obtained by [[percutaneous]] [[umbilical]] blood sampling when the [[karyotype]] is needed more rapidly.
*The [[karyotype]] does not determine the [[phenotype]].
*A diagnosis of [[Turner syndrome]] made solely by [[fetal]] [[karyotyping]] should be followed up with careful [[ultrasonography]] to define the phenotypic abnormalities as accurately as possible.
*When a [[prenatal]] diagnosis of [[Turner syndrome]], counseling is ordinarily provided for the family by a medical geneticist, a pediatric endocrinologist, or another physician with special knowledge of [[Turner syndrome]].  


OR
===Birth to 1 month of age – Confirmation of [[prenatal]] diagnosis OR New [[karyotype]] analysis + Additional cytogenic studies===


There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
*'''If the diagnosis has not been made?''' <ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of [[Turner syndrome]]. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338  }} </ref>
**The standard 30 cell [[karyotype]] analysis should be performed if a single clinical feature (short stature, [[hydrops fetalis]], [[cystic hygroma]], characteristic facial features) or two commonly associated conditions ([[Madelung deformity]], [[cardiac]] or [[renal]] anomalies, [[multiple nevi]]) are seen.
**In patients with [[virilization]] but absent Y chromosomal abnormalities on initial analysis, [[fluorescent in situ hybridization]] (FISH) or [[PCR]] techniques specific for cryptic Y material may be performed.
**[[polymerase chain reaction]] can also be used to detect [[methylation]] sites indicative of inactivateded X [[chromosomes]].
**Females with short stature and deletion of the distal region of the paternal X [[chromosome]] including the [[SHOX gene]] are generally not diagnosed with [[Turner syndrome]].
**Similarly, individuals with deletions of Xq24, with primary or secondary [[amenorrhea]] and without short stature are diagnosed as [[premature ovarian failure]].
**Small deletions of the long arm of the X-[[chromosome]] distal to Xq24 are not included in the diagnosis of [[Turner syndrome]].
**Next generation sequencing technologies such as [[whole genomes]], [[exomes]] and [[gene panel sequencing]] may be used in newborn screening.
*'''Does the diagnosis need to be confirmed?'''
**Perform a [[cytogenic]] study of a [[peripheral blood smear]] (blood [[mononuclear]] [[cells]]) or other tissue (e.g. skin [[biopsy]] for cell culture or [[buccal mucosa]]/ [[bladder]] [[epithelial]] cell smear for FISH) after consulting with the physician.
**In the presence of [[mosaicism]], look for the presence of Y [[chromosome]] which may infer that there is an increase for [[gonadoblastoma]].
*Ortolani and Barlow maneuvers for congenital hip dysplasia. <ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338  }} </ref>
*Hearing tests performed and compared with newborn hearing screening results.
*Consult with a pediatric cardiologist. Studies have shown that [[echocardiographs]] or [[ultrasonographies]] should be performed by pediatric cardiologists as their interpretation skills are better. Also discuss the need for antibiotic prophylaxis for bacterial [[endocarditis]].
*Check for [[brachiofemoral]] delay and an [[auscultatory]] gap.
*Consult with an [[endocrinologist]] to discuss about [[estrogen]] replacement therapy, growth hormone therapy and the future need for hormone replacement therapy and assisted reproductive techniques.
*[[renal]] Ultrasound for structural abnormalities such as horse-shoe shaped kidney, duplicate [[ureter]].
*Inform that [[lymphedema]] may persist.
*Counsel regarding the cosmetic and functional effect of abnormalities and treatment for same.
*Feeding difficulties may be present due to inadequate sucking and swallowing reflexes.
*Patient education regarding [[Turner syndrome]] and how to approach society regarding this.
*Height weight and a complete physical examination.
*Complete blood count, fasting blood glucose, lipid profile, bone mineral density, and [[renal]], liver and [[thyroid]] function tests.
===1 month to 5 years of age===
*Comparison of present weight with previous weights is important as [[lymphedema]] dissipates due to [[diuresis]] in the first month of the child’s life.
*Remember that [[Turner syndrome]] is the most common cause of short stature in an otherwise healthy girl. <ref name="pmid30560013">{{cite journal| author=Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J| title=A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. | journal=Intractable Rare Dis Res | year= 2018 | volume= 7 | issue= 4 | pages= 223-228 | pmid=30560013 | doi=10.5582/irdr.2017.01056 | pmc=6290843 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30560013  }} </ref>
*Assess for indications for of [[growth hormone]] therapy. Discuss risks and benefits.
*Check for [[hypertension]], [[brachiofemoral delay]] and [[auscultatory gap]]. If hypertension persists, treat aggressively. Consult with a pediatric cardiologist.
*If a [[cardiac]] anomaly is present, refer to a pediatric cardiologist and suggest [[antibiotic prophylaxis]] for [[infective endocarditis]].
*If [[urinary tract]] abnormalities are present, perform a [[urinalysis]] and culture.
*Perform regular hearing screens. Discuss risk factors (bottle feeding, passive smoking, group child-care) for [[otitis media]] and perform an evaluation for same. If present, refer to an [[otolaryngologist]] to discuss the placement of [[tympanostomy tubes]] and advise avoidance of loud noises.
*Evaluate for speech delays (which may be secondary to hearing loss).
*Refer to pediatric specialist and development intervention programs if indicated.
*Check for developmental delays and learning difficulties, especially [[visual spatial deficits]]. A thorough evaluation prior to entry into (and according to) preschool guidelines is warranted.  


OR
===5 to 13 years of age===


[Disease name] is primarily diagnosed based on the clinical presentation.
*As soon as the child is capable of understanding, [[Turner syndrome]] should be discussed with her. <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>
*Counselling regarding short stature and difficulties in school such as learning disabilities, attention deficits, [[hyperactivity]] and lack of social skills.
*Optimize bone mineral density and advise [[Vitamin D]] supplementation.
*Monitor growth and assess the need for adding [[oxandrolone]] to growth hormone therapy.
*Check for [[hypertension]], [[brachiofemoral delay]] and an [[auscultatory gap]]. Treat accordingly and aggressively.
*Perform regular hearing screens. Discuss risk factors for [[otitis media]] and perform an evaluation for same. If present, refer to an otolaryngologist, discuss the placement of [[tympanostomy tubes]] and advise avoidance of loud noises.
*Screen [[thyroid]] function test at 1-2 year intervals.
*Screen for [[urinary tract]] abnormalities.
*Screen child’s [[dentition]] for [[malocclusion]].
*Screen for [[kyphosis]]/[[scoliosis]].
*Screen for [[type 2 diabetes mellitus]] – [[glycosylated hemoglobin]] and oral glucose tolerance test.
*Check [[ovarian reserve]] using serum [[lutenizing hormone]], serum [[follicle stimulating hormone]], serum [[gonadotrophin releasing hormone]] and [[anti-Mullerian hormone]] levels.  


OR
===13-21 years of age===


Investigations:
*Monitor for increased incidence of [[pigmented nevi]] during adolescence and remove if they rub against clothing.<ref name="pmid29344338">{{cite journal| author=Shankar RK, Backeljauw PF| title=Current best practice in the management of Turner syndrome. | journal=Ther Adv Endocrinol Metab | year= 2018 | volume= 9 | issue= 1 | pages= 33-40 | pmid=29344338 | doi=10.1177/2042018817746291 | pmc=5761955 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29344338  }} </ref>
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
*Check for [[hypertension]], brachiofemoral delay and an auscultatory gap. Treat accordingly and aggressively.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
*Screen for [[hyperlipidemia]] once during adolescence, with a [[fasting lipid profile]].
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
*Screen for kyphosis/scoliosis annually.
*Perform regular hearing screens. Discuss risk factors for [[otitis media]] and perform an evaluation for same. If present, refer to an otolaryngologist, discuss the placement of tympanostomy tubes and advise avoidance of loud noises.
*Check ovarian reserve using serum lutenizing hormone, serum follicle stimulating hormone, serum gonadotrophin releasing hormone and anti Mullerian hormone levels.
*Refer to a pediatric endocrinologist to discuss [[sex hormone]] replacement therapy.<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>
*Refer to a cardiologist regardless of whether previous investigations suggested [[cardiac]] abnormalities or not. 
*Screen [[thyroid]] function test at 1-2 year intervals.  


==== The comparison of various diagnostic studies for [disease name] ====
*Performance in school, social adaptation, immaturity for their age, assisted reproductive techniques, sexual activity, sexually transmitted diseases and spontaneous pregnancies are issues that need to be discussed with the patient.
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>


===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
===== Sequence of Diagnostic Studies =====
The [name of investigation] must be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
OR
The various investigations must be performed in the following order:
* [Initial investigation]
* [2nd investigation]
=== Name of Diagnostic Criteria ===
'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
OR
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
OR
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
* Criteria 1
* Criteria 2
* Criteria 3
OR
'''IF there are clear, established diagnostic criteria'''
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
'''IF there are no established diagnostic criteria'''
There are no established criteria for the diagnosis of [disease name].


==References==
==References==
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Latest revision as of 11:36, 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

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.

Diagnostic Study of Choice

Prenatal Visit – Ultrasound + karyotype analysis

Birth to 1 month of age – Confirmation of prenatal diagnosis OR New karyotype analysis + Additional cytogenic studies

1 month to 5 years of age

  • Comparison of present weight with previous weights is important as lymphedema dissipates due to diuresis in the first month of the child’s life.
  • Remember that Turner syndrome is the most common cause of short stature in an otherwise healthy girl. [2]
  • Assess for indications for of growth hormone therapy. Discuss risks and benefits.
  • Check for hypertension, brachiofemoral delay and auscultatory gap. If hypertension persists, treat aggressively. Consult with a pediatric cardiologist.
  • If a cardiac anomaly is present, refer to a pediatric cardiologist and suggest antibiotic prophylaxis for infective endocarditis.
  • If urinary tract abnormalities are present, perform a urinalysis and culture.
  • Perform regular hearing screens. Discuss risk factors (bottle feeding, passive smoking, group child-care) for otitis media and perform an evaluation for same. If present, refer to an otolaryngologist to discuss the placement of tympanostomy tubes and advise avoidance of loud noises.
  • Evaluate for speech delays (which may be secondary to hearing loss).
  • Refer to pediatric specialist and development intervention programs if indicated.
  • Check for developmental delays and learning difficulties, especially visual spatial deficits. A thorough evaluation prior to entry into (and according to) preschool guidelines is warranted.

5 to 13 years of age

13-21 years of age

  • Monitor for increased incidence of pigmented nevi during adolescence and remove if they rub against clothing.[1]
  • Check for hypertension, brachiofemoral delay and an auscultatory gap. Treat accordingly and aggressively.
  • Screen for hyperlipidemia once during adolescence, with a fasting lipid profile.
  • Screen for kyphosis/scoliosis annually.
  • Perform regular hearing screens. Discuss risk factors for otitis media and perform an evaluation for same. If present, refer to an otolaryngologist, discuss the placement of tympanostomy tubes and advise avoidance of loud noises.
  • Check ovarian reserve using serum lutenizing hormone, serum follicle stimulating hormone, serum gonadotrophin releasing hormone and anti Mullerian hormone levels.
  • Refer to a pediatric endocrinologist to discuss sex hormone replacement therapy.[3]
  • Refer to a cardiologist regardless of whether previous investigations suggested cardiac abnormalities or not.
  • Screen thyroid function test at 1-2 year intervals.
  • Performance in school, social adaptation, immaturity for their age, assisted reproductive techniques, sexual activity, sexually transmitted diseases and spontaneous pregnancies are issues that need to be discussed with the patient.


References

  1. ↑ 1.0 1.1 1.2 1.3 Shankar RK, Backeljauw PF (2018). "Current best practice in the management of [[Turner syndrome]]". Ther Adv Endocrinol Metab. 9 (1): 33–40. doi:10.1177/2042018817746291. PMC 5761955. PMID 29344338. URL–wikilink conflict (help)
  2. ↑ Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J (2018). "A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment". Intractable Rare Dis Res. 7 (4): 223–228. doi:10.5582/irdr.2017.01056. PMC 6290843. PMID 30560013.
  3. ↑ 3.0 3.1 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.

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