Turner syndrome screening

Turner syndrome Microchapters
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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 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.
  • 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.
• ECGs should be performed as long QT syndrome frequently occurs secondary to medication used to treat complications of Turner syndrome.
  1. 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:
  1. Serum gonadotrophins and anti Mullerian hormone- ovarian reserve.
  2. Renal function tests – renal failure secondary to structural abnormalities.
  3. Thyroid function tests – thyroiditis, hypothyroidism, hyperthyroidism
  4. Liver function tests – focal nodular hyperplasia
  5. Serum IgA, IgA anti endomysium antibodies and IgA antigliadin antibodies – Celiac disease
  6. Lipid profile – hyperlipidemia
  7. Oral glucose tolerance test and serum glycosylated hemoglobin – for type 2 diabetes mellitus.
  8. Serum 25-hydroxyvitamin D- Vitamin D deficiency.

References

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