Turner syndrome screening: Difference between revisions
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According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3]. | According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3]. | ||
===Screening=== | |||
*The ‘Diagnostic study of choice’ page in this microchapter helps to integrate the below screening modalities in a clinical setting. | |||
*In addition, frequent referral to departments such as cardiology, nephrology, embryology, genetics, endocrinology, otorhinolaryngology, ophthalmology, dermatology and rheumatology ensures that a detail physical examination can be done to catch early signs of associated conditions seen in Turner syndrome. | |||
*Screening newborns usually first involves a bed side ultrasonography which may reveal nuchal translucency, structural abnormalities such as shortened limbs, lymphedema of hands and feed, cystic hygroma and cardiac defects. | |||
*This is used along with a maternal serum screening test which detects high inhibin B, low unconjugated estriol, high human chorionic gonadotrophin and low alpha feto protein. | |||
*Once a diagnosis has been established, screening is aimed at detecting complications. | |||
*Individuals on growth hormone should be screened regularly with forward bend tests and X-rays as the therapy exposes underlying scoliosis. | |||
*Echocardiography for cardiac structural abnormalities especially aortic dilation that predisposes the individual to aortic dissection and sudden cardiac death. | |||
**The aortic severity index is a useful prognostic indicator when assessing for the risk of aortic dilatation. <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> | |||
**It is the aortic diameter corrected for body surface area and a score of more than 2.3cm/m2 indicates a high risk of aortic dissection (2-2.3cm/m2 is considered as moderate risk). | |||
**The advice offered to moderate risk patients is restriction of activities and that offered to high risk patients is that they should completely avoid competitive sports and intensive weight training. | |||
*Renal ultrasound for structural abnormalities like duplication of the collecting system and horseshoe shaped kidney. | |||
*Dual energy x-ray absorptiometry (DEXA) scans may be done to test bone mineral density. | |||
*Audiology for sensorineural and conductive hearing loss. | |||
*Multidisciplinary neuropsychiatric evaluation should be done at major transitional stages such preschool entry and high school entry. <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> | |||
*ECGs should be performed as long QT syndrome frequently occurs secondary to medication used to treat complications of Turner syndrome. | |||
*#Individuals with a Y karyotypic abnormality should be screened with fluorescent insitu hybridization and polymerase chain reaction techniques, to detect the risk of developing a gonadoblastoma. | |||
*Laboratory investigations that may help in screening include: <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> | |||
*#Serum gonadotrophins and anti Mullerian hormone- ovarian reserve. | |||
*#Renal function tests – renal failure secondary to structural abnormalities. | |||
* | *#Thyroid function tests – thyroiditis, hypothyroidism, hyperthyroidism | ||
* | *#Liver function tests – focal nodular hyperplasia | ||
* | *#Serum IgA, IgA anti endomysium antibodies and IgA antigliadin antibodies – Celiac disease | ||
*#Lipid profile – hyperlipidemia | |||
*#Oral glucose tolerance test and serum glycosylated hemoglobin – for type 2 diabetes mellitus. | |||
*#Serum 25-hydroxyvitamin D- Vitamin D deficiency. | |||
==References== | ==References== | ||
Revision as of 18:55, 17 August 2020
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Turner syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Turner syndrome screening On the Web |
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American Roentgen Ray Society Images of Turner syndrome screening |
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Risk calculators and risk factors for Turner syndrome screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]
Overview
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR
According to the [guideline name], screening for [disease name] is not recommended.
OR
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
Screening
- The ‘Diagnostic study of choice’ page in this microchapter helps to integrate the below screening modalities in a clinical setting.
- In addition, frequent referral to departments such as cardiology, nephrology, embryology, genetics, endocrinology, otorhinolaryngology, ophthalmology, dermatology and rheumatology ensures that a detail physical examination can be done to catch early signs of associated conditions seen in Turner syndrome.
- Screening newborns usually first involves a bed side ultrasonography which may reveal nuchal translucency, structural abnormalities such as shortened limbs, lymphedema of hands and feed, cystic hygroma and cardiac defects.
- This is used along with a maternal serum screening test which detects high inhibin B, low unconjugated estriol, high human chorionic gonadotrophin and low alpha feto protein.
- Once a diagnosis has been established, screening is aimed at detecting complications.
- Individuals on growth hormone should be screened regularly with forward bend tests and X-rays as the therapy exposes underlying scoliosis.
- Echocardiography for cardiac structural abnormalities especially aortic dilation that predisposes the individual to aortic dissection and sudden cardiac death.
- The aortic severity index is a useful prognostic indicator when assessing for the risk of aortic dilatation. [1]
- It is the aortic diameter corrected for body surface area and a score of more than 2.3cm/m2 indicates a high risk of aortic dissection (2-2.3cm/m2 is considered as moderate risk).
- The advice offered to moderate risk patients is restriction of activities and that offered to high risk patients is that they should completely avoid competitive sports and intensive weight training.
- Renal ultrasound for structural abnormalities like duplication of the collecting system and horseshoe shaped kidney.
- Dual energy x-ray absorptiometry (DEXA) scans may be done to test bone mineral density.
- Audiology for sensorineural and conductive hearing loss.
- Multidisciplinary neuropsychiatric evaluation should be done at major transitional stages such preschool entry and high school entry. [1]
- ECGs should be performed as long QT syndrome frequently occurs secondary to medication used to treat complications of Turner syndrome.
- Individuals with a Y karyotypic abnormality should be screened with fluorescent insitu hybridization and polymerase chain reaction techniques, to detect the risk of developing a gonadoblastoma.
- Laboratory investigations that may help in screening include: [2]
- Serum gonadotrophins and anti Mullerian hormone- ovarian reserve.
- Renal function tests – renal failure secondary to structural abnormalities.
- Thyroid function tests – thyroiditis, hypothyroidism, hyperthyroidism
- Liver function tests – focal nodular hyperplasia
- Serum IgA, IgA anti endomysium antibodies and IgA antigliadin antibodies – Celiac disease
- Lipid profile – hyperlipidemia
- Oral glucose tolerance test and serum glycosylated hemoglobin – for type 2 diabetes mellitus.
- Serum 25-hydroxyvitamin D- Vitamin D deficiency.
References
- ↑ 1.0 1.1 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.
- ↑ 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.