Turner syndrome screening

Jump to navigation Jump to search

Turner syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Turner syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

Echocardiography and Ultrasound

CT

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Turner syndrome screening On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Turner syndrome screening

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Turner syndrome screening

CDC on Turner syndrome screening

Turner syndrome screening in the news

Blogs on Turner syndrome screening

Directions to Hospitals Treating Turner syndrome

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

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.

Screening


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)

References

  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.

Template:WH Template:WS