European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

Abstract

Objective: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Consensus Process: Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement. Recommendations: The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T₄ supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy.

Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results

“…However, only 53% had any form of imaging performed and the definitive etiology was reported as having been established in only 48% of infants. While there remains some controversy over the use of imaging at diagnosis, the benefits to establishing etiology are clearly defined in consensus guidelines from both the AAP and the ESPE [3,4]. The lack of definitive diagnosis, though, has implications when assessing the management history and procedures for re-evaluating whether the child requires lifelong levothyroxine therapy for permanent hypothyroidism.…”

“…The AAP consensus guidelines suggest discontinuing for 30 days followed by retesting at the end of that 30 day period. The ESPE consensus guidelines suggest a graded dose reduction in increments of 30% with assessment to determine if TSH rises to equal or greater than 10 mU/L over 4-6 weeks [3,4]. Table 6 summarizes the recommendations for when to re-evaluate from the most recent consensus committee statement from the ESPE [4].…”

“…The ESPE consensus guidelines suggest a graded dose reduction in increments of 30% with assessment to determine if TSH rises to equal or greater than 10 mU/L over 4-6 weeks [3,4]. Table 6 summarizes the recommendations for when to re-evaluate from the most recent consensus committee statement from the ESPE [4]. Beyond clinical management, family education is a key component to enhancing the care of a patient with CH.…”

“…In addition, clinical follow-up of these children is critical to ensure that they receive appropriate monitoring and management. The American Academy of Pediatrics (AAP) and the European Society for Pediatric Endocrinology (ESPE) have published guidelines for the treatment of CH which recommend follow-up of CH cases until at least three years of age [3,4].…”

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

“…3.12. The indication or indications to treat hypothyroidism, the dosage of levothyroxine and the therapeutic goals should be the same as for any patient with hypothyroidism or subclinical hypothyroidism [211][212][213] (A++).…”