Turner syndrome secondary prevention
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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 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.