Turner syndrome screening

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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]


Screening for complications of Turner syndrome starts as early as a prenatal visit. Abnormal maternal serum screening tests or an ultrasound detecting structural anomalies such shortened limbs, cystic hygromas, congenital heart defects or increased swelling of the hands or feet may point towards a diagnosis of Turner syndrome. As the years progress, screening involves a multidisciplinary combination of lab investigations (such as serum gonadotrophins, liver function tests, renal function tests, etc), referral to other departments (cardiology, endocrinology, ophthalmology, etc) and tools such as DEXA scans, X-rays, echocardiography, etc.


2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines[4]

Diagnostic and Therapeutic Recommendations for Turner Syndrome

Class I
1.Women with Turner syndrome should be evaluated for bicuspid aortic valve, coarctation of the aorta, and enlargement of the ascending aorta. (Level of Evidence: B-NR)
Class IIa
1.Prophylactic replacement of the aortic root or ascending aorta in adults with Turner syndrome is reasonable when the aortic diameter is 2.5 cm/m2 or greater.

(Level of Evidence: B-NR)


  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. URL–wikilink conflict (help)
  2. 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.
  3. 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.
  4. Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM; et al. (2019). "2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines". J Am Coll Cardiol. 73 (12): 1494–1563. doi:10.1016/j.jacc.2018.08.1028. PMID 30121240.

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