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Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus Guideline
  1. Hannah Jacob1,
  2. Catherine Peters2
  1. 1UCL Institute of Child Health, London, UK
  2. 2Department of Endocrinology, Great Ormond Street Hospital, London, UK
  1. Correspondence to Dr Hannah Jacob, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; hcjacob{at}gmail.com

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Information about current guideline

The European Society for Paediatric Endocrinology (ESPE) published this guideline in January 2014. Its aim is to provide evidence-based recommendations for ‘optimal screening, prompt diagnosis, and adequate treatment’ of congenital hypothyroidism (CH).1 The guideline was formulated by a panel of experts from the ESPE and invited paediatric endocrinologist colleagues from around the world.

Previous guidelines

In 2013, the UK Newborn Screening Programme Centre, together with the UK Screening Laboratories Network and the British Society for Paediatric Endocrinology and Diabetes (BSPED), produced ‘Congenital Hypothyroidism: Initial Clinical Referral Standards and Guidelines’.2 This outlined the screening protocol nationwide, including thresholds for diagnosis, referral and recommendations for treatment. This guideline is particularly relevant to UK paediatricians given its reference to national screening policies and configuration of child health services. For example, it recommends that CH management be the responsibility of a paediatric endocrinologist or other lead paediatrician with appropriate experience. There are also national guidelines for CH screening in preterm infants (see box 1 for resources).

Box 1

Resources

  • Full guideline:

    Leger et al.1

  • UK information for parents:

    http://newbornbloodspot.screening.nhs.uk/cht

  • UK standards and guidelines

    https://www.bsped.org.uk/clinical/docs/128977_ Congenital_Booklet_A4_12pp-5LO.pdf

  • UK guidelines for preterm infants

    http://www.newbornbloodspot.screening.nhs.uk/cht-preterm-policy

ESPE and the American Academy of Pediatrics have also published previous guidelines. Nevertheless, considerable variations in practice persist worldwide, spurring the development of this guideline.3–5 Indeed, an audit of UK practice found marked variation, particularly around treatment and follow-up arrangements.6

Key issues addressed in this guideline

  • Neonatal screening: primary CH is best detected by determination of thyroid stimulating hormone (TSH) concentration, either on dried blood spot or venous sampling. Second screening of those in whom TSH may be suppressed initially, including preterm and unwell neonates, or those with a low birth weight, should be arranged before discharge from hospital. The BSPED 2012 guideline on CH screening in preterms recommends that for infants born <32 weeks …

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