Turner syndrome secondary prevention: Difference between revisions
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==Overview== | ==Overview== | ||
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. | ||
==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. | *There are no established measures for the secondary prevention of Turner Syndrome. Secondary prevention is aimed at preventing complications of [[Turner syndrome]]. | ||
*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 2.3 cm per metre square indicates a high risk of aortic dissection (2-2.3 cm per metre square is considered as moderate risk). | **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 as 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> | *Multidisciplinary [[neuropsychiatric]] evaluation should be done at major transitional stages such as 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. | *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> | ||
*#Serum gonadotrophins and anti Mullerian hormone- ovarian reserve. | *#[[Serum gonadotrophins]] and [[anti Mullerian hormone]]- [[ovarian reserve]]. | ||
*#Renal function tests – renal failure secondary to structural abnormalities. | *#Renal function tests – [[renal failure]] secondary to structural abnormalities. | ||
*#Thyroid function tests – thyroiditis, hypothyroidism, hyperthyroidism | *#Thyroid function tests – [[thyroiditis]], [hypothyroidism]], [[hyperthyroidism]] | ||
*#Liver function tests – focal nodular hyperplasia | *#Liver function tests – [[focal nodular hyperplasia]] | ||
*#Serum IgA, IgA anti endomysium antibodies and IgA antigliadin antibodies – Celiac disease | *#Serum IgA, IgA anti endomysium antibodies and IgA antigliadin antibodies – [[Celiac disease]] | ||
*#Lipid profile – hyperlipidemia | *#Lipid profile – [[hyperlipidemia]] | ||
*#Oral glucose tolerance test and serum glycosylated hemoglobin – for type 2 diabetes mellitus. | *#Oral glucose tolerance test and [[serum glycosylated hemoglobin]] – for [[type 2 diabetes mellitus]]. | ||
*#Serum 25-hydroxyvitamin D- Vitamin D deficiency. | *#[[Serum 25-hydroxyvitamin D]]- [[Vitamin D deficiency]]. | ||
==References== | ==References== | ||
Latest revision as of 14:46, 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
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.
Secondary Prevention
- There are no established measures for the secondary prevention of Turner Syndrome. Secondary prevention is aimed at preventing complications of Turner syndrome.
- 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 as 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.