Turner syndrome screening: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 24: | Line 24: | ||
*Echocardiography for cardiac structural abnormalities especially aortic dilation that predisposes the individual to aortic dissection and sudden cardiac death. | *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> | **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. | **It is the aortic diameter corrected for body surface area and a score of more than 2.3 cm per metre square indicates a high risk of aortic dissection (2-2.3 cm per metre square 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. | **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. | *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. | *Dual energy x-ray absorptiometry (DEXA) scans may be done to test bone mineral density. | ||
*Audiology for sensorineural and conductive hearing loss. | *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=" | *Multidisciplinary neuropsychiatric evaluation should be done at major transitional stages such preschool entry and high school entry. <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> | ||
*ECGs should be performed as long QT syndrome frequently occurs secondary to medication used to treat complications of Turner syndrome. | *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> | *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> | ||
Revision as of 19:38, 17 August 2020
|
Turner syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Turner syndrome screening On the Web |
|
American Roentgen Ray Society Images of Turner syndrome screening |
|
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 2.3 cm per metre square indicates a high risk of aortic dissection (2-2.3 cm per metre square 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. [2]
- 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: [3]
- 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
- ↑ 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.
- ↑ 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.
- ↑ 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.